Detalhe da pesquisa
1.
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Am J Med Genet A
; 188(4): 1307-1310, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995019
2.
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
Am J Med Genet A
; 182(3): 548-552, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833199
3.
A founder noncoding GALT variant interfering with splicing causes galactosemia.
J Inherit Metab Dis
; 43(6): 1199-1204, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748411
4.
Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: A brief summary.
Mitochondrion
; 72: 102-105, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633406
5.
Spastic Diplegia in a Haitian Girl with Angelman Syndrome.
J Pediatr Genet
; 9(2): 104-108, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341813