223 related articles for article (PubMed ID: 36972941)
41. [Genetic analysis of a child with Hypotrichosis simplex].
Zhai Y; Li X; Wang W; Dou J; Wang J; Shi D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):351-355. PubMed ID: 38448028
[TBL] [Abstract][Full Text] [Related]
42. [Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C].
Zhai S; Liu L; Yuan L; Cheng G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):718-722. PubMed ID: 37212009
[TBL] [Abstract][Full Text] [Related]
43. [Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].
Ma Q; Che L; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1356-1359. PubMed ID: 37906141
[TBL] [Abstract][Full Text] [Related]
44. [Clinical and genetic analysis of a case of Gitelman syndrome with comorbid Graves disease and adrenocortical adenoma].
Qiao Y; Zhao J; Cao L; Li Y; Wu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1409-1413. PubMed ID: 37906151
[TBL] [Abstract][Full Text] [Related]
45. [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
Han R; Liu X; Ye E; Wu S; Zhao J; Duan L; Xia Y; Ding J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):374-377. PubMed ID: 35446969
[TBL] [Abstract][Full Text] [Related]
46. [Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].
Li J; Kang H; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1080-1084. PubMed ID: 36184087
[TBL] [Abstract][Full Text] [Related]
47. [A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene].
Wang J; He X; Chen D; Hang S; Gao Y; Li X; Hu K; Bai C; Chen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):977-980. PubMed ID: 34625936
[TBL] [Abstract][Full Text] [Related]
48. [Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].
Zhu L; Han Y; Qiu S; Xu N; Zhang X; Li Y; Yang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):577-580. PubMed ID: 38684304
[TBL] [Abstract][Full Text] [Related]
49. [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]
50. [Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1].
Yan L; Cao J; Zhang Y; Li D; Liu Y; Yang X; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):92-95. PubMed ID: 38171566
[TBL] [Abstract][Full Text] [Related]
51. [Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].
Ding Y; Wang T; Xiang J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):844-848. PubMed ID: 38946370
[TBL] [Abstract][Full Text] [Related]
52. [Clinical and genetic analysis of a very early-onset inflammatory bowel disease type 28 child with atypical clinical manifestation].
Zhang Y; Wang D; Kang L; Zhang X; Zhang K; Zhang H; Liu Y; Li X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):1015-1020. PubMed ID: 37532504
[TBL] [Abstract][Full Text] [Related]
53. [Analysis of a pedigree affected with HSAS syndrome due to a noval variant of L1CAM gene].
Hong Z; Ma L; Mao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):83-86. PubMed ID: 33423266
[TBL] [Abstract][Full Text] [Related]
54. [Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1].
Zhang W; Mao L; Zhang J; Xu H; Chen B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1118-1123. PubMed ID: 37643958
[TBL] [Abstract][Full Text] [Related]
55. [Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene].
Tang H; Song X; Weng X; Liu M; Zhao N
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):221-224. PubMed ID: 38311563
[TBL] [Abstract][Full Text] [Related]
56. [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
Li J; Kang H; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1367-1372. PubMed ID: 37906143
[TBL] [Abstract][Full Text] [Related]
57. [Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].
Wang J; Wei X; Tao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):413-416. PubMed ID: 35446978
[TBL] [Abstract][Full Text] [Related]
58. [Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome].
Cheng Q; Chu W; Huo P; Shi Z; Zheng Z; Wang J; Gao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):208-212. PubMed ID: 36709942
[TBL] [Abstract][Full Text] [Related]
59. Identification of a Novel Nonsense Mutation in
Zou Y; Luo H; Yuan H; Xie K; Yang Y; Huang S; Yang B; Liu Y
Front Neurol; 2022; 13():904027. PubMed ID: 35873758
[TBL] [Abstract][Full Text] [Related]
60. [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].
Shao X; Ma J; Wang Z; Sun M; Huang Z; Jiang Z; Liu X; Li S; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1324-1329. PubMed ID: 37906135
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
