82 related articles for article (PubMed ID: 38649797)
1. 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]
2. Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
Yasin M; Licchetta L; Khan N; Ullah I; Jan Z; Dawood M; Ahmed AN; Azeem A; Minardi R; Carelli V; Saleha S
BMC Neurol; 2024 May; 24(1):172. PubMed ID: 38783254
[TBL] [Abstract][Full Text] [Related]
3. Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S; Verma IC; Mahay SB; Dubey S; Sabharwal RK; Kulshrestha S; Saxena R; Suman P; Kumar P; Puri RD
Indian J Pediatr; 2024 Jul; 91(7):682-695. PubMed ID: 37804371
[TBL] [Abstract][Full Text] [Related]
4. Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J; Xu Y; Liu Y; Yue L; Jin H; Chen Y; Wang D; Wang M; Chen G; Yang L; Zhang G; Zhang X; Li S; Zhao H; Zhao Y; Niu G; Gao Y; Cai Z; Yang F; Zhu C; Zhu D
JAMA Netw Open; 2024 Jun; 7(6):e2415084. PubMed ID: 38837156
[TBL] [Abstract][Full Text] [Related]
5. Comprehensive evaluation of the child with global developmental delays or intellectual disability.
Aldosari A; Aldosari T
Clin Exp Pediatr; 2024 May; ():. PubMed ID: 38810986
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic
Kang Q; Kang H; Tang J; Wang M; Jiang H; Ning Z; Wu L
Front Neurosci; 2024; 18():1301865. PubMed ID: 38800572
[TBL] [Abstract][Full Text] [Related]
7. A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Kouhashi M; Yukawa K; Yano N; Hagemeijer MC; Hirata S; Kambe D; Yokoyama A; Yoshida A; Kora K; de Ronde CJ; Vrieswijk S; van der Meijden E; Yoshida T; Yamashita H
Neurol Genet; 2024 Jun; 10(3):e200161. PubMed ID: 38831911
[TBL] [Abstract][Full Text] [Related]
8. A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.
Han JY; Park J
Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573370
[TBL] [Abstract][Full Text] [Related]
9. The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis.
Sánchez-Luquez KY; Carpena MX; Karam SM; Tovo-Rodrigues L
Mutat Res Rev Mutat Res; 2022; 790():108428. PubMed ID: 35905832
[TBL] [Abstract][Full Text] [Related]
10. Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.
Ma H; Zhu L; Yang X; Ao M; Zhang S; Guo M; Dai X; Ma X; Zhang X
BMC Genomics; 2024 Apr; 25(1):391. PubMed ID: 38649797
[TBL] [Abstract][Full Text] [Related]
11. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
[TBL] [Abstract][Full Text] [Related]
12. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X; Liu B; Yang L; Wang H; Wu B; Liu R; Chen H; Chen X; Yu S; Chen B; Wang S; Xu X; Zhou W; Lu Y
J Med Genet; 2020 Aug; 57(8):558-566. PubMed ID: 32005694
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
14. Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing.
Xiang J; Ding Y; Yang F; Gao A; Zhang W; Tang H; Mao J; He Q; Zhang Q; Wang T
Front Genet; 2021; 12():738561. PubMed ID: 34858471
[No Abstract] [Full Text] [Related]
15. Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Hsu RH; Lee CH; Chien YH; Lin SP; Hung MZ; Chen NC; Lin YL; Hwu WL; Lee NC
Mol Genet Genomic Med; 2023 Jun; 11(6):e2160. PubMed ID: 36849876
[TBL] [Abstract][Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]