Detalhe da pesquisa
1.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
2.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
3.
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Clin Chim Acta
; 519: 285-290, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022244