126 related articles for article (PubMed ID: 36453964)
1. [Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene].
Ren Z; Lei X; Zeng M; Yang K; Guo Q; Yu S; Lou G; Zhang B; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Dec; 39(12):1385-1389. PubMed ID: 36453964
[TBL] [Abstract][Full Text] [Related]
2. Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q; Zhang Y; Li L; Yang N
Mol Genet Genomic Med; 2024 May; 12(5):e2420. PubMed ID: 38773911
[TBL] [Abstract][Full Text] [Related]
3. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.
Di Caprio A; Rossi C; Bertucci E; Bedetti L; Bertoncelli N; Miselli F; Corso L; Bondi C; Iughetti L; Berardi A; Lugli L
Eur J Med Genet; 2024 Feb; 67():104906. PubMed ID: 38143025
[TBL] [Abstract][Full Text] [Related]
4. [Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].
Li Z; Liu K; Zhao X; Li L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):821-824. PubMed ID: 38946365
[TBL] [Abstract][Full Text] [Related]
5. [Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].
Wang Q; Yang Y; Liu L; Tie X; Lei H; Zhang L; Che F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1111-1115. PubMed ID: 36184094
[TBL] [Abstract][Full Text] [Related]
6. [Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
Tang J; Ling J; Zhang C; Hao S; Ma J; Li J; Zhao L; Wang Y; Hui L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):680-685. PubMed ID: 37212002
[TBL] [Abstract][Full Text] [Related]
7. A
Jiang M; Yang L; Wu J; Xiong F; Li J
Transl Pediatr; 2021 Jun; 10(6):1748-1754. PubMed ID: 34295791
[TBL] [Abstract][Full Text] [Related]
8. [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
Zhang W; Qi N; Guo L; Wang H; Gao Y; Hou Q; Lou G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):966-972. PubMed ID: 37532496
[TBL] [Abstract][Full Text] [Related]
9. [Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].
Yi Z; Zhang Y; Yang C; Song Z; Xue J; Pan H; Zhu H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):260-263. PubMed ID: 33751537
[TBL] [Abstract][Full Text] [Related]
10. [Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
Li W; Fu T; Tamang S; Wang Y; Wang H; Zhuo Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):730-733. PubMed ID: 38818559
[TBL] [Abstract][Full Text] [Related]
11. [Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].
Yan L; Liu Y; Zhang Y; Tian L; Cao J; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):36-41. PubMed ID: 36584998
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
[TBL] [Abstract][Full Text] [Related]
14. What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo
Bukvic N; Chetta M; Bagnulo R; Leotta V; Pantaleo A; Palumbo O; Palumbo P; Oro M; Rivieccio M; Laforgia N; De Rinaldis M; Rosati A; Kerkhof J; Sadikovic B; Resta N
Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672906
[TBL] [Abstract][Full Text] [Related]
15. [Analysis of CNNM2 gene variant in a child with Hypomagnesemia, seizures, and mental retardation syndrome].
Wang L; Zhang H; Luo J; Qi F; Liu Y; Zhang K; Gao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):1004-1008. PubMed ID: 37532502
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with microphthalmia/coloboma and skeletal dysplasia syndrome due to variant of MAB21L2 gene].
Tang W; Bai Z; Jiang B; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):854-858. PubMed ID: 35929935
[TBL] [Abstract][Full Text] [Related]
18. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
Li J; Xu J; She M; Shi P; Kong X; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1228-1232. PubMed ID: 36317208
[TBL] [Abstract][Full Text] [Related]
19. [Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42].
Ren Y; Lyu Y; Ma J; Wang D; Zhang G; Liu Y; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):565-568. PubMed ID: 34096027
[TBL] [Abstract][Full Text] [Related]
20. [Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].
He F; Xu S; Li Q; Jiang M; Mao X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1089-1092. PubMed ID: 36184089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
