Detalhe da pesquisa
1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34102099
2.
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Am J Med Genet A
; 185(5): 1519-1524, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33634591
3.
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
Pediatr Blood Cancer
; 67(3): e28103, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31793173
4.
Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.
J Genet Couns
; 23(4): 539-51, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24449059
5.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34519438
6.
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
Int J Neonatal Screen
; 5(4): 42, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33073000
7.
Patterns of Comorbidity Among Girls With ADHD: A Meta-analysis.
Pediatrics
; 138(4)2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27694280