128 related articles for article (PubMed ID: 38565511)
1. [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
Meng F; Shi Y; Ju D; Wang X; Dong H; Li X; Li X; Zhou X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):450-455. PubMed ID: 38565511
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].
Zhang T; Zhu X; Gao Z; Huang W; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):937-941. PubMed ID: 34625927
[TBL] [Abstract][Full Text] [Related]
3. [Genetic analysis of a fetus with cryptophthalmos due to variants of FREM2 gene].
Chen H; Li S; Gao J; Cui G; Yang T; Zhao X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):606-611. PubMed ID: 38684310
[TBL] [Abstract][Full Text] [Related]
4. [Prenatal diagnosis for a fetus with Walker-Warburg syndrome].
Ma P; Chen X; Hui L; Zhang Q; Zhang C; Hao S; Yang L; Wang X; Xu F; Zhou B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):572-576. PubMed ID: 37102292
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. [Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene].
Hua Y; Yang L; Sun S; Li Y; Han Y; Zhu L; Xu N; Qiu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1140-1145. PubMed ID: 37643962
[TBL] [Abstract][Full Text] [Related]
7. [Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene].
Shi P; Zhao X; Liu L; Xia Y; Wang C; Chen D; Hou Y; Bai Z; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):354-359. PubMed ID: 36854414
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. [Genetic analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene].
Huang H; Chen P; Feng Q; Liu Y; Cheng C; Chen X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):250-254. PubMed ID: 38311569
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. [Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7].
Zhang Y; Yang S; Huo X; Liao S; Hou Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):194-197. PubMed ID: 35076918
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene].
Zhao G; Zhao X; Zhao X; Wang C; Jiao Z; Li Q; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1236-1240. PubMed ID: 37730223
[TBL] [Abstract][Full Text] [Related]
13. [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
Zeng L; Lin L; Zhang Y; Lin K; Xu Q; Lin C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):802-806. PubMed ID: 37368380
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. [Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].
Yan L; Huo Y; Liu Y; Zhang Y; Han C; Cao J; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1330-1333. PubMed ID: 37906136
[TBL] [Abstract][Full Text] [Related]
16. [Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].
Su L; Zhu X; Wu Q; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1373-1376. PubMed ID: 37906144
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
Zhang Y; Wu X; Liu Q; Yan X; Liu H; Feng D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):821-827. PubMed ID: 37368383
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. [Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].
Zou J; Zhang Y; Liu Y; Xue A; Yan L; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):582-587. PubMed ID: 37102294
[TBL] [Abstract][Full Text] [Related]
20. [Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].
Zhao Y; Shan S; Zhang K; Jin H; Hou F; Cao L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):835-839. PubMed ID: 38946368
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]