Detalhe da pesquisa
1.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
2.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Hum Mutat
; 36(10): 1009-1014, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173930
3.
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.
Mol Genet Metab Rep
; 24: 100613, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514400
4.
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Eur J Hum Genet
; 26(9): 1272-1281, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29904177