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1.
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
2.
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
J Cell Mol Med
; 21(7): 1388-1393, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28157257
3.
Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases.
Front Pediatr
; 11: 1203289, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37593442
4.
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
JCI Insight
; 7(2)2022 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34905512
5.
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Eur J Hum Genet
; 28(2): 231-243, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31541171
6.
Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.
Sci Rep
; 8(1): 8424, 2018 05 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-29849037
7.
Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.
Ann Clin Lab Sci
; 47(1): 92-95, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28249924
8.
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.
Mol Med Rep
; 16(1): 473-477, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28498426
9.
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Chin Med J (Engl)
; 130(6): 703-709, 2017 Mar 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-28303854
10.
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
PLoS One
; 11(5): e0155908, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27196565
11.
A comparative study on the construction of medical teams in public primary and secondary schools after multi-channel distribution mode in Guangzhou / 中国学校卫生
Chinese Journal of School Health
; (12): 276-278, 2019.
Artículo
en Zh
| WPRIM | ID: wpr-819332
12.
Prevalence and impact factors of metabolic disorders among the high school students in Guangzhou / 中国学校卫生
Chinese Journal of School Health
; (12): 721-726, 2019.
Artículo
en Zh
| WPRIM | ID: wpr-818702
13.
Mediation of achievement goal orientation in the association between learning stress and sleep quality among middle school students / 中国学校卫生
Chinese Journal of School Health
; (12): 1013-1016, 2019.
Artículo
en Zh
| WPRIM | ID: wpr-818640
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