Detalles de la búsqueda
1.
Discovery of a Novel and Potent LCK Inhibitor for Leukemia Treatment via Deep Learning and Molecular Docking.
J Chem Inf Model;
2024 Jun 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38847742
2.
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Hum Genet;
141(3-4): 821-838, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34232384
3.
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Am J Hum Genet;
105(4): 803-812, 2019 10 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31564438
4.
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
J Med Genet;
58(7): 465-474, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32737134
5.
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Neural Plast;
2020: 6137083, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32684921
6.
Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.
Neural Plast;
2020: 8841522, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32802038
7.
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
J Med Genet;
55(5): 298-306, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29453195
8.
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Neural Plast;
2017: 3192090, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28695016
9.
Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.
Genet Med;
23(8): 1578-1579, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33941883
10.
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
Am J Med Genet A;
167A(10): 2357-65, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26079994
11.
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
BMC Med Genomics;
17(1): 32, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254107
12.
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
J Transl Med;
11: 284, 2013 Nov 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-24206587
13.
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Mol Genet Genomic Med;
11(3): e2103, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36373990
14.
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
J Transl Med;
10: 225, 2012 Nov 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-23151025
15.
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Front Genet;
13: 825082, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35711932
16.
Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.
Gene Expr Patterns;
43: 119229, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34968768
17.
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC Med Genomics;
15(1): 241, 2022 11 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401330
18.
Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.
Stem Cell Res;
53: 102271, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33714068
19.
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
BMC Med Genomics;
14(1): 277, 2021 11 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34809627
20.
[Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
27(6): 610-5, 2010 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-21154317