Search details
1.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-36869767
2.
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
BMC Endocr Disord
; 24(1): 8, 2024 Jan 12.
Article
in English
| MEDLINE | ID: mdl-38212772
3.
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
Nucleic Acids Res
; 50(20): 11755-11774, 2022 11 11.
Article
in English
| MEDLINE | ID: mdl-36350636
4.
Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.
Neurogenetics
; 24(2): 95-101, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36757469
5.
Germline Neurofibromin 1 mutation enhances the anti-tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity.
Br J Haematol
; 202(2): 328-343, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37144690
6.
Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. / å ä¾KIF1Aåºå åå¼ç¸å ³å¸¸æè²ä½æ¾æ§éä¼ ç¥ç»åè²éç¢æ£å¿ä¸´åºåéä¼ å¦åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 693-700, 2023 Dec 12.
Article
in English, Zh
| MEDLINE | ID: mdl-38105687
7.
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.
Neurogenetics
; 23(1): 11-17, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34716526
8.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33402738
9.
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.
Asian Pac J Allergy Immunol
; 2021 Jan 02.
Article
in English
| MEDLINE | ID: mdl-33386785
10.
Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients.
Clin Immunol
; 214: 108387, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32194234
11.
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
BMC Med Genet
; 20(1): 134, 2019 08 05.
Article
in English
| MEDLINE | ID: mdl-31382906
12.
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Clin Genet
; 96(4): 290-299, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31219622
13.
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
BMC Pediatr
; 19(1): 233, 2019 07 11.
Article
in English
| MEDLINE | ID: mdl-31296181
14.
[Identification of a novel SYNGAP1 mutation in a child with intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 716-719, 2019 Jul 10.
Article
in Zh
| MEDLINE | ID: mdl-31302919
15.
[Analysis of SATB2 gene mutation in a child with Glass syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 712-715, 2019 Jul 10.
Article
in Zh
| MEDLINE | ID: mdl-31302918
16.
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Genet Med
; 20(9): 1045-1053, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29095814
17.
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
Am J Med Genet A
; 173(12): 3189-3194, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28944580
18.
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
BMC Genomics
; 16: 701, 2015 Sep 16.
Article
in English
| MEDLINE | ID: mdl-26376624
19.
A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
Fetal Pediatr Pathol
; 33(3): 182-90, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24601847
20.
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Orphanet J Rare Dis
; 19(1): 149, 2024 Apr 08.
Article
in English
| MEDLINE | ID: mdl-38584252