Detalhe da pesquisa
1.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis
; 44(5): 1235-1247, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34014569
2.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Clin Genet
; 95(1): 177-181, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30298622
3.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23024289
4.
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.
Am J Med Genet A
; 146A(1): 93-6, 2008 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18076123