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1 r keratoderma associated with ichthyosis and sensorineural deafness.
2 cy-onset diabetes, congenital cataracts, and sensorineural deafness.
3 ve syndrome characterized by high myopia and sensorineural deafness.
4  acid-base homeostasis, often accompanied by sensorineural deafness.
5 mutation was linked to early-onset SRNS with sensorineural deafness.
6 progressive ponto-bulbar palsy and bilateral sensorineural deafness.
7 diabetes mellitus, megaloblastic anemia, and sensorineural deafness.
8  of myosin VI causes progressive postlingual sensorineural deafness.
9 bnormalities, optic nerve colobomas and mild sensorineural deafness.
10 genital, renal, and ear anomalies, including sensorineural deafness.
11 he molecular basis of nephrotic syndrome and sensorineural deafness.
12  diabetes mellitus, megaloblastic anemia and sensorineural deafness.
13 ith autosomal recessive dRTA associated with sensorineural deafness.
14 with 35 members with the A1555G mutation and sensorineural deafness.
15 ein 1 (TBL1), whose gene is mutated in human sensorineural deafness.
16 aniofrontonasal syndrome, and a nonsyndromic sensorineural deafness.
17 asting, disturbed acid-base homeostasis, and sensorineural deafness.
18 rized by megaloblastic anemia, diabetes, and sensorineural deafness.
19 e deciphering of the genetic architecture of sensorineural deafness.
20 alosis associated with epilepsy, ataxia, and sensorineural deafness.
21 muscle weakness, respiratory difficulty, and sensorineural deafness.
22 atients had heart disease, and 1 patient had sensorineural deafness.
23 with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we character
24  renal disease that is often associated with sensorineural deafness (Alport syndrome).
25 ion of symptoms, including epilepsy, ataxia, sensorineural deafness and a renal tubulopathy designate
26                                              Sensorineural deafness and balance dysfunction are commo
27 ogical disorder characterized by early-onset sensorineural deafness and brain anomalies.
28 aemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus.
29          Patients presented with early-onset sensorineural deafness and distal renal tubular acidosis
30 n is responsible for the familiar conditions sensorineural deafness and hypertrophic cardiomyopathy.
31           We report siblings with congenital sensorineural deafness and lactic acidemia in associatio
32 dult with aminoaciduria, seizures, bilateral sensorineural deafness and learning difficulties.
33  of mitochondrial RC dysfunction, congenital sensorineural deafness and progressive hepatic and renal
34 nction is known to cause hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome,
35 utosomal recessive disorder characterized by sensorineural deafness and tubular proteinuria.
36  the inner ear, cause the autosomal dominant sensorineural deafness and vestibular disorder, DFNA9 (O
37 d fever, rashes, arthralgia, conjunctivitis, sensorineural deafness, and an intense acute-phase respo
38 syndrome characterized by neonatal diabetes, sensorineural deafness, and congenital cataracts.
39 osynthesis pathway enzyme, develop SRNS with sensorineural deafness, and demonstrated the beneficial
40 eration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features.
41  deficiency - such as in hypoparathyroidism, sensorineural deafness, and renal (HDR) syndrome - by OP
42           In addition, three individuals had sensorineural deafness, and three had bronchial asthma.
43 e are tissue specific--eg, optic neuropathy, sensorineural deafness, and type 2 diabetes mellitus.
44 isability, cortical malformations, coloboma, sensorineural deafness, and typical facial features.
45 ties, severe cerebellar hypoplasia, profound sensorineural deafness, and visual impairment due to sev
46 erebellar hypoplasia, learning difficulties, sensorineural deafness, and visual impairment.
47 ome characterized by postlingual progressive sensorineural deafness as the first presenting symptom i
48 f these patients (73%) presented without the sensorineural deafness associated with Jervell and Lange
49 yndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes
50 etabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnorm
51 cognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and
52                                    Bilateral sensorineural deafness beginning in late childhood and e
53 ous DKC1 p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only o
54 everal human diseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth disease-5, a
55 hich is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction
56  before 12 months (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5),
57 nice, and stitch, with recessively inherited sensorineural deafness due to novel mutations in the tra
58 pe comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethali
59  severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dy
60 utosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide orga
61 dactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent inf
62 dactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent inf
63 aits of hypersensitivity to streptomycin and sensorineural deafness in a number of families from Chin
64 racterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in
65 rative disorder characterized by progressive sensorineural deafness in combination with childhood amy
66 i, providing a molecular explanation for the sensorineural deafness in ectodermal dysplasia patients
67 nconventional myosin XVa are associated with sensorineural deafness in humans (DFNB3) and shaker (Myo
68                                              Sensorineural deafness in MWS, and provocation of sympto
69 ed for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizure
70 s improve the diabetes, although progressive sensorineural deafness is irreversible.
71 sent in a pedigree with maternally inherited sensorineural deafness, levodopa-responsive parkinsonism
72 , Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome
73                         In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was sho
74 aracterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinson
75  Additional aspects of the phenotype include sensorineural deafness, reduced lifespan and decreased r
76 megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to
77 t Cx26 and Cx30 mutations that are linked to sensorineural deafness retained ionic coupling but were
78             Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguin
79 on, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges wit
80 ed a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infant
81 seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progre
82 gical outcomes of patients with single-sided sensorineural deafness (SSD), their effects on the patie
83 ous syndrome ocular albinism with late onset sensorineural deafness syndromes.
84 chondrial RNA metabolism have been linked to sensorineural deafness that often occurs as a consequenc
85 iency with agranulocytosis, lymphopenia, and sensorineural deafness that requires hematopoietic stem
86 ibes the association of profound, congenital sensorineural deafness, vestibular hypofunction and chil
87    Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence in the epide
88 ired cause of developmental disabilities and sensorineural deafness, yet a reliable assessment of the