ライフサイエンスコーパス: autosomal

1 e PgABCA2 and is not completely recessive or autosomal.

2 We report 568 associations, including 286 autosomal, 7 X-chromosomal and 25 identified in ancestry

3 port a method called ContamLD for estimating autosomal ancient DNA (aDNA) contamination by measuring

4 re under greater diversifying selection than autosomal and organellar genes.

5 ndisjunction, having been linked to numerous autosomal and sex chromosome trisomies of maternal origi

6 post-term, and the most frequent survivable autosomal aneuploidy.

7 show that recessive mutations disrupting an autosomal ATP-binding cassette gene (PgABCA2) are associ

8 igate the prevalence and penetrance of large autosomal CNVs and chromosomal aneuploidies using a stan

9 milial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, which causes elev

10 nd treatment selection for many acquired and autosomal conditions necessitate a method for accurately

11 uality control, 134 participants and 414,818 autosomal cytosine-phosphate-guanine sites were used for

12 era dorsalis early embryos, we identified an autosomal-derived microRNA, miR-1-3p, that has predicted

13 Comel-Netherton syndrome (NS) is a rare autosomal disease, characterized by severe skin disease,

14 In comparison of autosomal DNA methylation patterns across sex, hundreds

15 one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative var

16 GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-ro

17 pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, wer

18 ses (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88%

19 approach, we first explored in subjects with autosomal dominant AD (ADAD) from the Dominantly Inherit

20 n the preclinical phase of both sporadic and autosomal dominant AD, multiple behavioral features were

21 The similarities with sporadic and autosomal dominant Alzheimer's disease and the prevalenc

22 sition of amyloid-beta in the basal ganglia, autosomal dominant Alzheimer's disease could distinctly

23 age-matched non-carriers from the Colombian autosomal dominant Alzheimer's disease kindred.

24 e proven as a clinically relevant finding in autosomal dominant Alzheimer's disease, in particular in

25 In the paediatric CMT2A population (autosomal dominant and autosomal recessive CMT2A grouped

26 Here, we report 13 families (12 autosomal dominant and one autosomal recessive) with an

27 structures in amyloid plaques of cases with autosomal dominant and sporadic AD.

28 Cerebral autosomal dominant arteriopathy with subcortical infarct

29 The small-vessel disorder cerebral autosomal dominant arteriopathy with subcortical infarct

30 Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder with a unique, plat

31 reditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised

32 achado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia.

33 year, the CMTESv2 increases significantly in autosomal dominant CMT2A (mean change 0.84 +/- 2.42; two

34 A childhood onset of autosomal dominant CMT2A is the most predictive marker o

35 When compared to adult onset autosomal dominant CMT2A, it is associated with signific

36 Inherited prion diseases are caused by autosomal dominant coding mutations in the human prion p

37 Three inherited autosomal dominant conditions-BRCA-related hereditary br

38 exception of p.A352_P355del associated with autosomal dominant cone-rod dystrophy.

39 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by multiorgan h

40 Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presen

41 Despite being an autosomal dominant disorder caused by a known coding mut

42 most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a

43 l British and Danish dementia (FBD and FDD), autosomal dominant disorders characterized by progressiv

44 m Spain and 1 from Sweden) suffering from an autosomal dominant distal myopathy.

45 y [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predic

46 Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor an

47 dystrophy type 1 (FSHD-1) is the most common autosomal dominant form of muscular dystrophy with a pre

48 monovalent cation channel, as a cause of an autosomal dominant form of progressive symmetric erythro

49 , nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are

50 roteins, are among the most common causes of autosomal dominant FSGS.

51 sorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC che

52 NM or familial mutation [FM]) of deleterious autosomal dominant germline mutations for any syndrome.

53 s with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected indi

54 ons in WASHC5 (also known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) t

55 from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and la

56 Autosomal dominant hyper-IgE syndrome (AD-HIES) is typic

57 Autosomal dominant hypertension with brachydactyly clini

58 Autosomal dominant hypocalcified amelogenesis imperfecta

59 scription factor, in a Caucasian family with autosomal dominant hypoplastic AI.

60 ematically characterize a large panel of >50 autosomal dominant INF2 mutants that have been reported

61 e in a large European Australian family with autosomal dominant inheritance of frontotemporal dementi

62 (HalphaT), a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPS

63 any of these diseases occur as the result of autosomal dominant inheritance, suggesting that WT and m

64 s CEP85L variants, including 2 families with autosomal dominant inheritance.

65 ecently defined gene that is associated with autosomal dominant inherited tooth agenesis.

66 th spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutatio

67 Neurofibromatosis type 2 (NF2) is an autosomal dominant Mendelian tumor predisposition disord

68 entified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndro

69 p.Glu396Lys), in a large Chinese family with autosomal dominant multiple pilomatricomas.

70 gammaHV68 in heterozygous mice that have an autosomal dominant mutation in the STAT1 coiled-coil dom

71 h B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B.

72 Here, we identify autosomal dominant mutations of the canonical Notch liga

73 cells-derived neurons from PD patients with autosomal dominant mutations, A53T and SNCA-triplication

74 diseases caused by heterozygous mutations or autosomal dominant mutations.

75 ntington's disease (HD) is a fatal inherited autosomal dominant neurodegenerative disorder caused by

76 Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurodevelopmental disorder character

77 sufficiency of the KCNN2 gene, lead to novel autosomal dominant neurodevelopmental movement disorders

78 The autosomal dominant neuronal ceroid lipofuscinoses (NCL)

79 nish probands and one Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL).

80 sues, as well as genes associated with known autosomal dominant OFC syndromes.

81 In autosomal dominant optic atrophy (ADOA), caused by mutat

82 in D domain of PSAP from three families with autosomal dominant Parkinson's disease.

83 Multiple trichilemmal cysts present in an autosomal dominant pattern of inheritance, yet the genet

84 The PRKAG2 syndrome is a rare autosomal dominant phenocopy of sarcomeric hypertrophic

85 Autosomal dominant polycystic kidney disease (ADPKD) aff

86 olycystin proteins, PC-1 and PC-2, result in autosomal dominant polycystic kidney disease (ADPKD) and

87 essive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are

88 r of the underpinning molecular pathology of autosomal dominant polycystic kidney disease (ADPKD) by

89 It is unknown whether early diagnosis of autosomal dominant polycystic kidney disease (ADPKD) can

90 Autosomal dominant polycystic kidney disease (ADPKD) is

91 Autosomal dominant polycystic kidney disease (ADPKD) is

92 Autosomal dominant polycystic kidney disease (ADPKD) is

93 Autosomal dominant polycystic kidney disease (ADPKD) is

94 Autosomal dominant polycystic kidney disease (ADPKD) is

95 Autosomal dominant polycystic kidney disease (ADPKD) is

96 The Mayo Clinic imaging classification of autosomal dominant polycystic kidney disease (ADPKD) use

97 mutations in PC2 lead to the development of autosomal dominant polycystic kidney disease (ADPKD), a

98 Autosomal dominant polycystic kidney disease (ADPKD), ca

99 occurs before renal function deteriorates in autosomal dominant polycystic kidney disease (ADPKD).

100 stin-1 and polycystin-2, respectively, cause autosomal dominant polycystic kidney disease (ADPKD).

101 oteins polycystin 1 or polycystin 2 leads to autosomal dominant polycystic kidney disease (ADPKD).

102 s a major cause of loss of renal function in autosomal dominant polycystic kidney disease (ADPKD).

103 l are responsible for many clinical cases of autosomal dominant polycystic kidney disease (ADPKD).

104 Mutations in the polycystins cause autosomal dominant polycystic kidney disease (ADPKD).

105 the most common extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).

106 some of the cardiovascular manifestations of autosomal dominant polycystic kidney disease derive dire

107 eurysms with MR angiography in patients with autosomal dominant polycystic kidney disease is cost-eff

108 more common monogenic kidney diseases after autosomal dominant polycystic kidney disease, accounting

109 ytopathy, diabetic nephropathy, albuminuria, autosomal dominant polycystic kidney disease, and ischem

110 Mutations in the channel protein PKD2 cause autosomal dominant polycystic kidney disease, but the fu

111 The autosomal dominant presentation of trichilemmal cysts is

112 ve progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.

113 sed by the P23H mutation is a major cause of autosomal dominant retinitis pigmentosa (adRP).

114 mutation and misfolding is a common cause of autosomal dominant retinitis pigmentosa (RP).

115 Patients with autosomal dominant RP (adRP) had the highest proportion

116 307N Rho mouse is a light-inducible model of autosomal dominant RP.

117 ctrum of SEC61A1-mediated disease to include autosomal dominant SCN.

118 Autosomal dominant STAT1 mutations in humans have been a

119 Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that causes tumor formation

120 indicates a central role for Sp1 in causing autosomal dominant transmission of BMF, thereby confirmi

121 d two unrelated pedigrees in which there was autosomal dominant transmission of multiple dermatofibro

122 Autosomal dominant tubulointerstitial kidney diseases (A

123 Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome, characteri

124 icate that familial trichilemmal cysts is an autosomal dominant tumor syndrome resulting from two hit

125 Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disorder caused by heterozyg

126 itary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia.

127 Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease ty

128 (April 2017-September 2019); and a Colombian autosomal-dominant AD kindred (cohort 3), including 365

129 MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z a

130 Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by

131 F variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17

132 cal discipline need to be made aware of this autosomal-dominant disease.

133 syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex n

134 Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder characterized by the develop

135 Hereditary pancreatitis (HP) is a heritable, autosomal-dominant disorder with recurrent acute pancrea

136 K2) are the most common cause of late-onset, autosomal-dominant familial Parkinson's disease (PD).

137 RUNX1 mutations result in the well-described autosomal-dominant familial platelet disorder with predi

138 , including progranulin (GRN), are causes of autosomal-dominant forms of human neurodegenerative dise

139 findings suggest that p.Asp395Gly VCP is an autosomal-dominant genetic mutation associated with neur

140 Autosomal-dominant hyper-IgE syndrome (AD-HIES, also kno

141 hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectiv

142 related, ethnically diverse individuals with autosomal-dominant IFAP syndrome.

143 lls, headache and malaise associated with an autosomal-dominant inheritance.

144 ic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caus

145 easing LMNB1 expression, are associated with autosomal-dominant leukodystrophy.

146 f recurrent fevers and lymphadenopathy in an autosomal-dominant manner.

147 e growing list of genes implicated in severe autosomal-dominant microcephaly and broadens the phenoty

148 apulohumeral muscular dystrophy (FSHD) is an autosomal-dominant myopathy characterized by slowly prog

149 Huntington's disease is an autosomal-dominant neurodegenerative disease caused by C

150 unrelated Parkinson's disease probands with autosomal-dominant Parkinson's disease and 1934 patients

151 sease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson's disease cohort (10 of 242

152 n's disease, 242 probands from families with autosomal-dominant Parkinson's disease, and 1242 sEOPD p

153 embers of the index family with a late-onset autosomal-dominant parkinsonism and polyneuropathy.

154 Although familial PAH most often has an autosomal-dominant pattern of inheritance, cases of inco

155 5 [p.R215I] in ADAM17 co-segregating with an autosomal-dominant pattern of late-onset AD in one famil

156 p.Leu523Pro) KIF3B variant segregating in an autosomal-dominant pattern.

157 The cause of autosomal-dominant retinitis pigmentosa (adRP), which le

158 ased, and in vivo modeling data delineate an autosomal-dominant syndromic retinal ciliopathy in human

159 /genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations

160 DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition dis

161 Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorde

162 As) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, th

163 outlier approach, we identified 4,452 unique autosomal epivariations, including potentially inactivat

164 ived Z chromosome segment that arose from an autosomal fusion with the ancestral Z [4].

165 The X-linked and autosomal genes independently influence mitosis such tha

166 , a higher proportion of Z-linked genes than autosomal genes showed differential expression, providin

167 We report here 190 autosomal genes with 207 predicted LoF variants, for whi

168 autosomal) genes and enriched for distinct cell-type sig

169 We identify 156 autosomal genetic determinants of LOY, which we replicat

170 tion for other traits, we here find that the autosomal genetic effects are weaker on women than on me

171 estrogen can play a role in attenuating the autosomal genetic effects of these two traits.

172 ossover analysis, we show that sex-dependent autosomal genetic effects on Alzheimer's disease can be

173 ensively investigate sexual heterogeneity in autosomal genetic effects, for traits regarding cardiova

174 ematic biases present at ~1%-3% of the human autosomal genome across five patient cohorts.

175 e population relationships inferred from the autosomal genomes and mirror mitochondrial DNA phylogeni

176 ociation testing for a total of ~ 18 million autosomal genotyped and imputed variants.

177 nd paternal lineages in France as well as of autosomal genotypes.

178 Fragile-X mental retardation autosomal homologue-1 (FXR1) is a muscle-enriched RNA-bi

179 aternal half-siblings-using the locations of autosomal IBD segments shared between the pair.

180 computational threads detects 231.5 billion autosomal IBD segments with length >=2 cM in 24.4 h.

181 dividuals, with many large pedigrees showing autosomal inheritance patterns.

182 c variants in a diagnostic gene panel of 396 autosomal intellectual disability genes were tested for

183 ation of H3 on lysine 27 (H3K27me3) mediates autosomal maternal allele-specific gene silencing and ha

184 We identified 19,632 autosomal mosaic chromosomal alterations and analysed th

185 haematopoietic cells on the basis of 33,250 autosomal mosaic chromosomal alterations that we detecte

186 We tested whether germline autosomal mutation rates in young adults predict their r

187 torage disease type Ia (GSD Ia) is caused by autosomal mutations in glucose-6-phosphatase alpha catal

188 Huntington's disease (HD) is an autosomal neurodegenerative disease caused by the expans

189 lated proteins 1 and 2 (FXR1P and FXR2P) are autosomal paralogs of FMRP that are involved in promotin

190 , whose human homologues are associated with autosomal polycystic kidney disease, is an essential pro

191 in nuclear ploidy is the likely result of an autosomal polymorphism, for which the BALB/cByJ allele i

192 The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a m

193 ts, present within 187 genes associated with autosomal recessive (AR) inherited retinal diseases (IRD

194 d and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5%

195 the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs.

196 he cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-associated protein Snx14

197 e suggest that current AI cohorts, both with autosomal recessive and dominant disease, be screened fo

198 participants with ocular disease (amblyopia, autosomal recessive bestrophinopathy, premature birth) h

199 Fowler syndrome is a rare autosomal recessive brain vascular disorder caused by mu

200 Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy affecting multiple organs

201 ric CMT2A population (autosomal dominant and autosomal recessive CMT2A grouped together), the CMT Ped

202 hort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genoty

203 Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of U

204 In horses, the autosomal recessive condition known as Glycogen Branchin

205 liary G-protein Rab28, associated with human autosomal recessive cone-rod dystrophy, negatively regul

206 Autosomal recessive congenital ichthyosis (ARCI) is a di

207 ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder, geleophy

208 D both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese populati

209 Ataxia-telangiectasia (A-T) is an autosomal recessive disease caused by mutation of the AT

210 yridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the A

211 Here we report a novel autosomal recessive disease characterized by absent B ce

212 Cystic fibrosis (CF) is a life-threatening autosomal recessive disease, caused by mutations in the

213 Autosomal recessive diseases, such as cystic fibrosis (C

214 efects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutati

215 Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the

216 Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the

217 testinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP

218 lo-meta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stat

219 Surfactant protein B (SP-B) deficiency is an autosomal recessive disorder that impairs surfactant hom

220 s, presenting with a previously unrecognized autosomal recessive disorder that included a severe form

221 an E3 ubiquitin ligase, are associated with autosomal recessive early-onset Parkinson's disease (PD)

222 tein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy wi

223 variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphi

224 ic loss-of-function mutations in EXPH5 in an autosomal recessive form of epidermolysis bullosa simple

225 ent a family with two siblings displaying an autosomal recessive form of NS with massive hypertrophic

226 ion mutations in DJ-1 were found to cause an autosomal recessive form of Parkinson's disease.

227 naldehyde-binding protein (CRALBP), cause an autosomal recessive form of retinal degeneration.

228 Reticular dysgenesis is an autosomal recessive form of severe combined immunodefici

229 ing our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collab

230 itochondrial proteins has been implicated in autosomal recessive forms of optic atrophy that involve

231 Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder with increased inte

232 Autosomal recessive genetic forms (DFNB) account for mos

233 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES).

234 in was dependent on AP-1B and its coadaptor, autosomal recessive hypercholesterolemia protein (ARH),

235 In addition to reporting a complete autosomal recessive IFN-gamma receptor 1-deficient patie

236 The autosomal recessive immunodeficiency, centromeric instab

237 Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by

238 Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary bea

239 Pedigree analysis suggested an autosomal recessive inheritance.

240 arly affected, deceased siblings, suggesting autosomal recessive inheritance.

241 aused by choline transporter deficiency with autosomal recessive inheritance.

242 ariants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), wit

243 herited retinal diseases ranging from severe autosomal recessive Leber congenital amaurosis to later

244 arcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LG

245 Autosomal recessive LRBA risk alleles are associated wit

246 IIIB (MPS IIIB; Sanfilippo syndrome B) is an autosomal recessive lysosomal storage disorder caused by

247 was developed and confirmed fully penetrant autosomal recessive mode of inheritance.

248 Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by delet

249 Autosomal recessive mutations in the galactosidase beta1

250 Brody disease is an autosomal recessive myopathy characterized by exercise-i

251 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior mi

252 that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting

253 itis pigmentosa (RP), and also contribute to autosomal recessive non-syndromic RP.

254 Usher syndrome type 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (A

255 oxide, which determined that the patient had autosomal recessive NOS2 deficiency.

256 as now been identified as responsible for an autosomal recessive optic neuropathy from a Chinese cons

257 d all previously described GSDs segregate as autosomal recessive or X-linked traits.

258 , type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance.

259 It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutat

260 nfirmed by segregation analysis resulting in autosomal recessive pediatric DCM due to presumptive JPH

261 Autosomal recessive polycystic kidney disease (ARPKD) an

262 een bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) an

263 l cystic epithelial cells from patients with autosomal recessive polycystic kidney disease (ARPKD) ha

264 Autosomal recessive polycystic kidney disease (ARPKD) is

265 itulate the cystic phenotype associated with autosomal recessive polycystic kidney disease.

266 sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia

267 prcd (progressive rod-cone degeneration), an autosomal recessive progressive retinal atrophy (PRA) wi

268 ting for a high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive C

269 s in M1AP are a relatively frequent cause of autosomal recessive severe spermatogenic failure and mal

270 Autosomal recessive TK2 mutations cause depletion and mu

271 t 13 families (12 autosomal dominant and one autosomal recessive) with an anosmic form of IGD (Kallma

272 CLN3 Batten disease is an autosomal recessive, neurodegenerative, lysosomal storag

273 l role of GFRA1-inactivating variants for an autosomal recessive, nonsyndromic form of BRA.

274 stine transporter cystinosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinos

275 Autosomal-recessive cerebellar hypoplasia and ataxia con

276 ult-onset conditions, and carrier status for autosomal-recessive conditions.

277 Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the

278 Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloder

279 Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stat

280 Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic path

281 haly, and various facial dysmorphisms, in an autosomal-recessive fashion.

282 ssic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations.

283 These are the first reported cases of autosomal-recessive germline TET2 deficiency in humans,

284 in AP-4 subunits cause a complicated form of autosomal-recessive hereditary spastic paraplegia termed

285 e hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid me

286 Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disord

287 affected with this clinically heterogeneous autosomal-recessive neurological disorder.

288 perimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies i

289 ciated genes occurred more frequently in the autosomal-recessive Parkinson's disease cohort (65 of 19

290 n, including 192 probands from families with autosomal-recessive Parkinson's disease, 242 probands fr

291 F3B models as exemplified by an early-onset, autosomal-recessive, progressive retinal degeneration in

292 ashi Syndrome (CHS) is a well-characterized, autosomal recessively inherited lysosomal disease caused

293 and Ladakhi population based on a battery of autosomal single nucleotide polymorphisms (SNPs) and sho

294 e tests (n = 11,263-331,679) and genome-wide autosomal single-nucleotide polymorphisms.

295 Principal component analysis with autosomal SNPs separated the two genera, but failed to c

296 ogies (China), multiplexes amelogenin and 22 autosomal STRs, 17 of which are non-CODIS STRs.

297 The condition, transmitted as a recessive autosomal trait, is usually due to mutations in either t

298 lution of dosage compensation, provided that autosomal trans-regulatory sequences with sex-limited ef

299 cting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype.

300 consequences of the second most common human autosomal trisomy of infants who survive to term.