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1.
PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.
J Cell Mol Med
; 27(21): 3286-3295, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37550884
2.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
J Clin Lab Anal
; 36(11): e24708, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36164746
3.
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 282-285, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315036
4.
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
J Clin Lab Anal
; 35(2): e23647, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33124154
5.
The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.
J Clin Lab Anal
; 35(7): e23822, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34018631
6.
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 169-174, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29652985
7.
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 633-636, 2017 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28981921
8.
[Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 336-341, 2017 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28604950
9.
[Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 519-523, 2017 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28777850
10.
[SNP array analysis of three cases with partial 21q trisomy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 861-865, 2017 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29188617
11.
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 662-5, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27577217
12.
Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.
Mol Genet Genomic Med
; 9(4): e1638, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33638605
13.
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations.
Mol Cytogenet
; 13: 38, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32863884
14.
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Mol Genet Genomic Med
; 8(12): e1539, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33095980
15.
Correction to: Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
Mol Diagn Ther
; 23(1): 149, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30460549
16.
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Int J Pediatr Otorhinolaryngol
; 122: 185-190, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31035178
17.
Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
Mol Diagn Ther
; 22(6): 749-757, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30259421
18.
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.
Database (Oxford)
; 20162016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27580923
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