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1 neonates and young children with a suspected genetic disorder.
2 participating institutes because of presumed genetic disorder.
3 unrelated families suggested an unrecognized genetic disorder.
4 morbidity and mortality associated with this genetic disorder.
5 le cell disease (SCD), a prevalent hemolytic genetic disorder.
6 agnosis who were undergoing evaluation for a genetic disorder.
7 990s, Parkinson's disease was regarded a non-genetic disorder.
8 n Tuberous Sclerosis Complex (TSC) and other genetic disorders.
9 phenomenon occurring more widely in complex genetic disorders.
10 nform appropriate management of these common genetic disorders.
11 n deficiency (AATD) is among the most common genetic disorders.
12 es and, indeed, are also involved in several genetic disorders.
13 are associated with a variety of cancers and genetic disorders.
14 apeutic genome editing for a wide variety of genetic disorders.
15 holds immense potential to treat a range of genetic disorders.
16 in the development of cancers and many human genetic disorders.
17 e ABL1 changes have not been associated with genetic disorders.
18 to create nonhuman primate models for human genetic disorders.
19 viral inhibition phenotype and lipid storage genetic disorders.
20 an syndrome (NS) is one of the most frequent genetic disorders.
21 ic data can accelerate the discovery of rare genetic disorders.
22 Ca2+ signaling and link these genes to human genetic disorders.
23 f nonsense suppression for treatment of rare genetic disorders.
24 n, but these mutagenic events can also cause genetic disorders.
25 cally ill infants who were suspected to have genetic disorders.
26 including multidrug-resistant infections and genetic disorders.
27 and hypercholesterolemia, or can result from genetic disorders.
28 e Ca2+ genes were mapped to their associated genetic disorders.
29 es or hypercholesterolemia, and with certain genetic disorders.
30 f unknown cause and encompassing 13 distinct genetic disorders.
31 sponsible, when defective, for several human genetic disorders.
32 e decades, even for the most well-understood genetic disorders.
33 s (GUM) has entered clinical diagnostics for genetic disorders.
34 application of modern genomics is diagnosing genetic disorders.
35 n of INM proteins results in a range of rare genetic disorders.
36 ndividuals recruited for various undiagnosed genetic disorders.
37 s phenomics analyses in highly heterogeneous genetic disorders.
38 l genetic novelty and the cause of heritable genetic disorders.
39 nsgenic animal models for the study of human genetic disorders.
40 fied but functional proteins for an array of genetic disorders.
41 nity for treating human diseases, especially genetic disorders.
42 se, alcohol or tobacco abuse, malignancy, or genetic disorders.
43 ve technology for discovering and diagnosing genetic disorders.
44 d developing treatments for a broad range of genetic disorders.
45 is breaking up into quanta of many different genetic disorders.
46 ed 169 trial reports of 80 treatments for 32 genetic disorders.
47 e profound implications in cancer, aging and genetic disorders.
48 variation and occasionally can lead to human genetic disorders.
49 as a powerful genome-editing tool to correct genetic disorders.
50 associated with cancer, drug resistance, and genetic disorders.
51 d mildly hypo-leptinemic individuals without genetic disorders.
52 complex enzymes, with applicability to other genetic disorders.
53 omic alterations is crucial for diagnosis of genetic disorders.
54 patterns may be also observed in other human genetic disorders.
55 mutations causing their dysfunction lead to genetic disorders.
56 t images can facilitate the discovery of new genetic disorders.
57 the design of hiPSC-based studies of complex genetic disorders.
58 SCs) hold great promise for the modelling of genetic disorders.
59 ges, to identify the missing heritability in genetic disorders.
60 veries for genetic variants underlying human genetic disorders.
62 of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex.
64 c ovary syndrome (PCOS) is a common, complex genetic disorder affecting up to 15% of reproductive-age
66 and adenosine signalling systems, as well as genetic disorders affecting cardiac conduction and neuro
69 logenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity
71 ophila have aided our understanding of human genetic disorders, allowing the identification of new ge
76 screening tool in patients with established genetic disorders and determined the scope of GUM as a d
78 potential to reduce the burden of inherited genetic disorders and improve fertility treatments for c
79 gricultural applications, such as correcting genetic disorders and improving crop and livestock breed
80 our understanding of the molecular basis of genetic disorders and increased the utilization of clini
83 reciation of the roles of splice isoforms in genetic disorders and suggest that dissection of the fun
84 n (AAT) deficiency is one of the most common genetic disorders and the liver disease due to the Z mut
85 percentage of cases associated with specific genetic disorders and the proportion of variants that we
87 ng for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, we
88 %) presented with previously cataloged human genetic disorders and/or defined CNV hot spots in epilep
89 cology indications, 10 for infections, 8 for genetic disorders, and 7 for other systems disorders.
90 tion and management of diseases like cancer, genetic disorders, and recognition of microbial pathogen
92 of 2 kg or more; had no clinically observed genetic disorders; and had no serious illnesses and had
93 gy including epilepsy, hearing loss, and the genetic disorders Andermann, Gitelman, and Bartter syndr
94 telomerase reverse transcriptase, these rare genetic disorders are associated with an impaired telome
96 f pathogenic mutations in patients with rare genetic disorders are caused by this previously underapp
98 udy of macrophage-specific function in human genetic disorders as well as molecular studies of human
99 hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerot
101 of CL remodeling leads to the rare X-linked genetic disorder Barth syndrome, which shows disparities
102 This finding has implications for the severe genetic disorder, Barth syndrome (BTHS), in which CL met
103 TCs) is a potentially attractive therapy for genetic disorders, but a wide outcome variability has be
104 rearrangements and is implicated in numerous genetic disorders, but its detection in high-throughput
105 s therapeutic potential for the treatment of genetic disorders by directly correcting disease-causing
106 hat treat missense mutations associated with genetic disorders by either creating a PTC in the mutate
107 oaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated
108 en dysfunctional result in pleiotropic human genetic disorders called ciliopathies, characterized by
109 vidence that mutations associated with human genetic disorders can affect cis-regulatory elements to
110 hanistic framework that explains how diverse genetic disorders can converge on synapses in different
111 This review highlights examples relevant to genetic disorders, cancer, and neurodegeneration in whic
114 ulopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN
117 emann-Pick type C1 disease (NPC1) is a fatal genetic disorder caused by impaired intracellular choles
119 Duchenne muscular dystrophy (DMD) is a fatal genetic disorder caused by mutations in the dystrophin g
121 ic dystrophy type 1 (DM1) is a multisystemic genetic disorder caused by the CTG repeat expansion in t
122 lar atrophy (SMA) is a devastating infantile genetic disorder caused by the loss of survival motor ne
123 son-Gilford progeria syndrome (HGPS), a rare genetic disorder caused by the prelamin A mutant progeri
124 ized two individuals with a hitherto unknown genetic disorder caused by the same de novo mutation in
126 tralian families, we define 25 families with genetic disorders caused by a class of pathogenic non-co
127 ey disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation.
128 of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid
129 st isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initi
131 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on
132 ymorphic ventricular tachycardia (CPVT) is a genetic disorder causing life-threatening arrhythmias wh
134 emia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hype
135 notype and assess the role of a common human genetic disorder (CF) and a prototypical allergic diseas
136 ssociated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalise
137 mozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised L
139 ossificans progressiva (FOP) is a rare human genetic disorder characterized by altered skeletal devel
140 Crigler-Najjar syndrome (CN) is a very rare genetic disorder characterized by an inability to conjug
141 BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular ab
142 z trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies
143 ility and facial anomalies (ICF) syndrome, a genetic disorder characterized by DNA hypomethylation an
144 roduplication syndrome is a newly identified genetic disorder characterized by duplications in the 17
146 ein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disabilit
147 ypertrophic cardiomyopathy (HCM) is a common genetic disorder characterized by left ventricular hyper
151 ich causes Neurofibromatosis type 1 (NF1), a genetic disorder characterized by multiple benign and ma
153 rd progeria syndrome (HGPS) is a rare lethal genetic disorder characterized by symptoms reminiscent o
154 inant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the accumulation of ki
158 hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron over
162 findings add USP18 deficiency to the list of genetic disorders collectively termed type I interferono
164 ne-disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data and next genera
165 yriad of human diseases, including inherited genetic disorders, degenerative diseases, inflammation,
167 family, cause an expanding spectrum of human genetic disorders (e.g., H syndrome, PHID syndrome, and
168 ion of some STRs was associated with various genetic disorders (e.g., the Huntington disease), and th
169 rimary failure of eruption in humans, a rare genetic disorder exclusively affecting tooth eruption.
171 nesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and
172 because of their scientific understanding of genetic disorders, experience in dealing with patients,
175 thalassemia syndromes are the most prevalent genetic disorder globally, characterised by reduced or a
177 lying etiology of intellectual disability in genetic disorders holds great promise for developing tar
180 tathionine beta-synthase (CBS) deficiency, a genetic disorder in homocysteine (Hcy) metabolism in hum
185 systems are already being used to alleviate genetic disorders in animals and are likely to be employ
188 leterious mutations are common, causing many genetic disorders in humans and producing inbreeding dep
189 her highlight difficulties in modeling human genetic disorders in the mouse despite apparent conserva
190 matosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults
191 biopharmaceuticals treat major metabolic or genetic disorders, including Alzheimer's, diabetes, hype
192 ecrease telomerase function cause a range of genetic disorders, including dyskeratosis congenita, idi
193 and in acquired conditions that mimic these genetic disorders, including iron deficiency, inflammati
194 in43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited
196 A promising therapeutic strategy for diverse genetic disorders involves transplantation of autologous
200 familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated
202 he case with schizophrenia and other complex genetic disorders, larger sample sizes are needed to ide
203 n's disease (HD) is a well studied Mendelian genetic disorder, less is known about its associated epi
205 variants (CNVs) are a major cause of several genetic disorders, making their detection an essential c
206 J) is the site of a number of autoimmune and genetic disorders, many involving the muscle-type nicoti
207 The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurologi
208 may lead to the phenotypic manifestations of genetic disorders may lead to the discovery of new pharm
213 es BMP pathway signaling and causes the rare genetic disorder of heterotopic (extraskeletal) bone for
214 eover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the r
217 cted by early-onset neurodegeneration due to genetic disorders of DNA repair (Cockayne syndrome and x
218 response to these physiologic cues underlies genetic disorders of iron overload and deficiency, inclu
219 nic syndromes, a heterogeneous collection of genetic disorders of neuromuscular transmission characte
220 may offer a minimally invasive treatment for genetic disorders of the blood that can be achieved safe
222 tism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurologi
223 , such as observations in families with rare genetic disorders or in Mendelian randomization studies.
227 kodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter.
229 nger children and is most commonly caused by genetic disorders, renal disease, endocrine disorders, o
234 ders of the epigenetic machinery (MDEMs) are genetic disorders resulting from mutations in components
235 and medical concerns expands the spectrum of genetic disorders resulting from pathogenic variants in
238 s in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO, and Bal
239 containing cells from patients with the rare genetic disorder Shwachman-Diamond syndrome reproduced k
240 erns are consistent anatomical correlates of genetic disorders such as Down syndrome (DS) and autism
243 ng events do occur which have been linked to genetic disorders, such as several types of cancer and n
244 ted in cancers and certain cancer-associated genetic disorders, such as tuberous sclerosis complex (T
247 We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorder
250 or.SIGNIFICANCE STATEMENT Rett syndrome is a genetic disorder that includes language communication pr
252 n-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in t
253 Familial chylomicronemia syndrome is a rare genetic disorder that is caused by loss of lipoprotein l
254 (CTE) is a life-threatening recessive human genetic disorder that is caused by mutations in SPINT2,
255 aluated four patients with Pyle's disease, a genetic disorder that is characterized by cortical-bone
258 e underlying cause of Bloom Syndrome, a rare genetic disorder that is marked by strong cancer predisp
259 n this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental r
260 ined approach to identify and characterize a genetic disorder that leverages distantly related patien
261 rosis Complex (TSC) is an autosomal dominant genetic disorder that manifests with seizures, autism, a
262 ibution of Ras mutants to Noonan syndrome, a genetic disorder that prevents normal development in var
263 Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC
266 yndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and
268 The hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its con
269 arie-Tooth (CMT) neuropathies are a group of genetic disorders that affect the peripheral nervous sys
271 nzyme deficiencies comprise a large group of genetic disorders that generally lack effective treatmen
273 orders (FXDs) are Repeat Expansion Diseases, genetic disorders that result from the expansion of a di
274 identification and characterization of human genetic disorders that result in premature telomere shor
276 genetic conditions, as well as of other non-genetic disorders, that might present with PxD, provide
279 diagnosis as well as for discovery of novel genetic disorders through analysis of a single or a hand
280 preventing its widespread use for modelling genetic disorders through introducing disease-associated
281 of kinase-disease associations spanning from genetic disorders to complex diseases, including cancer.
282 single most important step for families with genetic disorders to enable personalized and preventativ
284 Niemann-Pick C1 (NPC1) disease is a rare genetic disorder triggered by mutations in NPC1, a multi
285 Associating these 1805 genes with human genetic disorders uncovered 1470 diseases with mutated '
286 es and rank variants related to diseases and genetic disorders, using a collection public databases (
287 potential of CRISPR/Cas9 in a diverse set of genetic disorders, we establish a pipeline that uses rea
289 ping "activator drugs" for a large number of genetic disorders where mutations have disrupted protein
290 g-associated toxicities, and other metabolic/genetic disorders which interact in an environment modul
291 olemia (FH) is a common autosomal codominant genetic disorder, which causes elevated levels of low-de
293 paths toward gene therapy for other complex genetic disorders, while also advancing treatments for a
294 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000
295 mochromatosis (HH) is an autosomal recessive genetic disorder with increased intestinal iron absorpti
296 olism that are similar to changes induced by genetic disorders with devastating neurodevelopmental de
298 in MED12 are linked with a broad spectrum of genetic disorders with X-linked intellectual disability
299 s a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, Nor
300 s a promising approach to treat a variety of genetic disorders, yet small molecules that promote PTC