171 related articles for article (PubMed ID: 37532501)
21. [Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome].
Wang Y; Niu B; Li R; Xie J; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1220-1223. PubMed ID: 34839511
[TBL] [Abstract][Full Text] [Related]
22. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
[TBL] [Abstract][Full Text] [Related]
23. [Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene].
Wang X; Deng Q; Wang J; Cai W; Gao J; Han Y; Chen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):847-850. PubMed ID: 37368388
[TBL] [Abstract][Full Text] [Related]
24. [Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].
Yang R; Hui L; Zhang C; Zhang Q; Wang Y; Hao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):456-460. PubMed ID: 38565512
[TBL] [Abstract][Full Text] [Related]
25. [Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].
Li S; Yu Z; Zhou F; Wang H; Wang Y; Mei S; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):209-214. PubMed ID: 38311561
[TBL] [Abstract][Full Text] [Related]
26. [Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene].
Wang L; Wang F; Wang X; Chen L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1292-1295. PubMed ID: 37730234
[TBL] [Abstract][Full Text] [Related]
27. [Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene].
Qiu S; Li X; Hua Y; Sun S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):571-576. PubMed ID: 38684303
[TBL] [Abstract][Full Text] [Related]
28. [Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene].
Tang W; Wu R; Qiu K; Zhang X; He Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):857-860. PubMed ID: 34487530
[TBL] [Abstract][Full Text] [Related]
29. [Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy].
Ding X; Liang B; Liang T; Li J; Wang F; Feng E
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):851-855. PubMed ID: 37368389
[TBL] [Abstract][Full Text] [Related]
30. [Clinical and genetic analysis of a child with early-onset severe obesity].
Wang P; Yang S; Zhou Q; Zhang J; Zhang Y; Li D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):473-477. PubMed ID: 36972945
[TBL] [Abstract][Full Text] [Related]
31. A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.
Zhang T; Wu Q; Zhu L; Wu D; Yang R; Qi M; Huang X
Eur J Med Genet; 2020 Apr; 63(4):103851. PubMed ID: 31953237
[TBL] [Abstract][Full Text] [Related]
32. [Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].
Ai Q; Chen Y; Chen S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):222-225. PubMed ID: 36709945
[TBL] [Abstract][Full Text] [Related]
33. [Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene].
Ren Y; Zhang Y; Zhang X; Wang Y; Liu X; Sheng J; Ning S; Liu W; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1551-1555. PubMed ID: 37994141
[TBL] [Abstract][Full Text] [Related]
34. [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
Jiang N; Liang S; Miao Y; Li S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):322-325. PubMed ID: 38448022
[TBL] [Abstract][Full Text] [Related]
35. [Clinical and genetic characteristics of a child with Developmental and epileptic encephalopathy 104 due to variant of ATP6V0A1 gene].
Li C; Wang Y; Chen S; Rong S; Huang B; Liu L; Lou H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):345-350. PubMed ID: 38448027
[TBL] [Abstract][Full Text] [Related]
36. [Analysis of genetic variants in four children with congenital hyperinsulinemia].
Lin L; Shen F; Yang Q; Yi S; Qin Z; Zhang Q; Luo J; Gao X; He S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):635-638. PubMed ID: 34247366
[TBL] [Abstract][Full Text] [Related]
37. [Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].
Wang C; Qiu X; Hu H; Jin B; Cheng Y; Zhao Y; Zhou C; Ma L; Zhang Y; Zheng F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):865-870. PubMed ID: 37368392
[TBL] [Abstract][Full Text] [Related]
38. [Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes].
Xu H; Hu R; Jiang X; Lei C; Huang Y; Wang P; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1246-1251. PubMed ID: 37730225
[TBL] [Abstract][Full Text] [Related]
39. [Analysis of genetic variant in a child with Aspartylglucosaminuria].
Gao A; Deng W; Yang Y; Liu Y; Wen J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):87-91. PubMed ID: 36585008
[TBL] [Abstract][Full Text] [Related]
40. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ; Li D; Harr MH; Tian L; Wang T; Zhao Y; Qiu H; Kim C; Hoffman JD; Hakonarson H; Zackai EH
Am J Med Genet A; 2015 Nov; 167A(11):2497-502. PubMed ID: 26111080
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]