154 related articles for article (PubMed ID: 38170291)
21. Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Harris JR; Gao CW; Britton JF; Applegate CD; Bjornsson HT; Fahrner JA
Hum Genet; 2024 Apr; 143(4):607-624. PubMed ID: 36952035
[TBL] [Abstract][Full Text] [Related]
22. Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Zheng Z; Ding L; Wang M; Zhang Y; Yang Y; Tang M; Xu J; Wang L; Wu J; Li H
Mol Genet Genomic Med; 2024 Jan; 12(1):e2306. PubMed ID: 37921229
[TBL] [Abstract][Full Text] [Related]
23. A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.
Kang Y; He D; Li Y; Zhang Y; Shao Q; Zhang M; Ban B
Mol Genet Genomic Med; 2019 Dec; 7(12):e988. PubMed ID: 31566922
[TBL] [Abstract][Full Text] [Related]
24. A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB; Kurt EE; Akçay EP; Sazci A; Ceylan AC
J Gene Med; 2021 Feb; 23(2):e3307. PubMed ID: 33368912
[TBL] [Abstract][Full Text] [Related]
25. A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.
Wang Q; Xu W; Liu Y; Yuan H
J Mol Neurosci; 2021 Mar; 71(3):607-612. PubMed ID: 32839936
[TBL] [Abstract][Full Text] [Related]
26. Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.
Li Q; Chang G; Yin L; Li J; Huang X; Shen Y; Li G; Xu Y; Wang J; Wang X
Sci Rep; 2020 Dec; 10(1):21224. PubMed ID: 33277604
[TBL] [Abstract][Full Text] [Related]
27. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S; Majethia P; Nair K; Rao LP; Mascarenhas S; Kaur N; do Rosario MC; Neethukrishna K; Chaurasia A; Hunakunti B; Jadhav N; Xavier S; Kumar J; Bhat V; Bhavani GS; Narayanan DL; Yatheesha BL; Patil SJ; Nampoothiri S; Kamath N; Aroor S; Bhat Y R; Lewis LE; Sharma S; Bajaj S; Sankhyan N; Siddiqui S; Nayak SS; Bielas S; Girisha KM; Shukla A
Eur J Hum Genet; 2023 Dec; ():. PubMed ID: 38114583
[TBL] [Abstract][Full Text] [Related]
28. A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in
Li R; Tian B; Liang H; Chen M; Yang H; Wang L; Pan H; Zhu H
Front Endocrinol (Lausanne); 2021; 12():604500. PubMed ID: 34659104
[TBL] [Abstract][Full Text] [Related]
29. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montaño D; Pachajoa H
Colomb Med (Cali); 2019 Mar; 50(1):40-45. PubMed ID: 31168168
[TBL] [Abstract][Full Text] [Related]
30. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Londin ER; Adijanto J; Philp N; Novelli A; Vitale E; Perria C; Serra G; Alesi V; Surrey S; Fortina P
Am J Med Genet A; 2014 Sep; 164A(9):2294-9. PubMed ID: 24898194
[TBL] [Abstract][Full Text] [Related]
31. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC; Marcos-Alcalde I; Assaf M; Balasubramanian M; Andersen JB; Bisgaard AM; Fitzpatrick DR; Gudmundsson S; Huisman SA; Kalayci T; Maas SM; Martinez F; McKee S; Menke LA; Mulder PA; Murch OD; Parker M; Pie J; Ramos FJ; Rieubland C; Rosenfeld Mokry JA; Scarano E; Shinawi M; Gómez-Puertas P; Tümer Z; Hennekam RC
Hum Genet; 2020 May; 139(5):575-592. PubMed ID: 32193685
[TBL] [Abstract][Full Text] [Related]
32. Clinical and genetic evaluation of children with short stature of unknown origin.
Zhao Q; Li Y; Shao Q; Zhang C; Kou S; Yang W; Zhang M; Ban B
BMC Med Genomics; 2023 Aug; 16(1):194. PubMed ID: 37605180
[TBL] [Abstract][Full Text] [Related]
33. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y; Hu G; Liu H; Zhang X; Huang Z; Yan H; Wang L; Fan Y; Gu X; Yu Y
Am J Med Genet A; 2017 Feb; 173(2):510-514. PubMed ID: 27759909
[TBL] [Abstract][Full Text] [Related]
34. Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Yoon JH; Hwang S; Bae H; Kim D; Seo GH; Koh JY; Ju YS; Do HS; Kim S; Kim GH; Kim JH; Choi JH; Lee BH
J Hum Genet; 2024 Jun; ():. PubMed ID: 38824232
[TBL] [Abstract][Full Text] [Related]
35. A novel mosaic variant on
Gonzalez Garcia A; Malone J; Li H
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532882
[TBL] [Abstract][Full Text] [Related]
36. Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
White-Brown A; Choufani S; ; Weksberg R; Dyment D
Am J Med Genet A; 2023 Oct; 191(10):2640-2646. PubMed ID: 37340855
[TBL] [Abstract][Full Text] [Related]
37. Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S; Chen S; Qin H; Yuan H; Pi Y; Yang Y; Huang H; Li G; Sun Y; Wang Z; Ma H; Fu X; Zhou T; Wang J; Zhang H; Shen Y
Orphanet J Rare Dis; 2019 Jun; 14(1):144. PubMed ID: 31200758
[TBL] [Abstract][Full Text] [Related]
38. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL; Homma TK; Funari MFA; Lerario AM; Leal AM; Velloso EDRP; Malaquias AC; Jorge AAL
Eur J Med Genet; 2018 Mar; 61(3):130-133. PubMed ID: 29133208
[TBL] [Abstract][Full Text] [Related]
39. Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Li Q; Sun C; Yang L; Lu W; Luo F
Transl Pediatr; 2021 Apr; 10(4):834-842. PubMed ID: 34012832
[TBL] [Abstract][Full Text] [Related]
40. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Usluer E; Sayın GY; Güneş N; Kasap B; Tüysüz B
Am J Med Genet A; 2022 Oct; 188(10):2976-2987. PubMed ID: 36097644
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]