21 related articles for article (PubMed ID: 35076919)
1. [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
Ren H; Zhao W; Jiang N; Li S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):561-564. PubMed ID: 38684301
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
Li S; Sheng Y; Wang X; Wang Y; Zhang Y; Wu C; Jiang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):807-811. PubMed ID: 38946362
[TBL] [Abstract][Full Text] [Related]
3. [Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].
Peng Z; Zhang C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):825-829. PubMed ID: 38946366
[TBL] [Abstract][Full Text] [Related]
4. A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.
Xiaoquan C; Yuting L; Pu M; Haiying C; Zheng W; Ye W; Fan Y; Mengmeng L; Jianhua F
Clin Neurol Neurosurg; 2023 Oct; 233():107956. PubMed ID: 37729800
[TBL] [Abstract][Full Text] [Related]
5. Different phenotypes caused by a STAT3 variant in a Chinese pedigree.
Sun Y; Wang X; Zhang H; Wang R; Shen M; Zhang X
Clin Exp Rheumatol; 2024 May; 42(5):1137-1138. PubMed ID: 37976116
[No Abstract] [Full Text] [Related]
6. [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].
Zhou XH; Ma AQ; Liu XH; Huang C; Zhang YM; Shi RM
Zhonghua Er Ke Za Zhi; 2006 Jul; 44(7):487-91. PubMed ID: 17044971
[TBL] [Abstract][Full Text] [Related]
7. Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
Bassi MT; Balottin U; Panzeri C; Piccinelli P; Castaldo P; Barrese V; Soldovieri MV; Miceli F; Colombo M; Bresolin N; Borgatti R; Taglialatela M
Neurogenetics; 2005 Dec; 6(4):185-93. PubMed ID: 16235065
[TBL] [Abstract][Full Text] [Related]
8. Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
Sadewa AH; Sasongko TH; ; Lee MJ; Daikoku K; Yamamoto A; Yamasaki T; Tanaka S; Matsuo M; Nishio H
Pediatr Int; 2008 Apr; 50(2):167-71. PubMed ID: 18353052
[TBL] [Abstract][Full Text] [Related]
9. [Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].
Li HY; Tang BS; Yan XX; Guo JF; Shen L; Song YM; Jiang H; Xia K; Xie ZG; Yang QA
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):374-7. PubMed ID: 16883520
[TBL] [Abstract][Full Text] [Related]
10. A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
de Haan GJ; Pinto D; Carton D; Bader A; Witte J; Peters E; van Erp G; Vandereyken W; Boezeman E; Wapenaar MC; Boon P; Halley D; Koeleman BP; Lindhout D
Epilepsia; 2006 May; 47(5):851-9. PubMed ID: 16686649
[TBL] [Abstract][Full Text] [Related]
11. [Clinical and genetic analysis of a Chinese pedigree affected with benign familial neonatal convulsion].
Zeng F; Song F; Ke H; Cheng R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):198-201. PubMed ID: 35076919
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of clinical features and PAK1 gene variant in a child with epilepsy and global developmental delay].
Yuan M; Zhang J; Li Y; Luo H; Zhang J; Gan J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):552-557. PubMed ID: 37102288
[TBL] [Abstract][Full Text] [Related]
13.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
14.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
