Detalhe da pesquisa
1.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
2.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
; 29(2): 271-279, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32901138
3.
Three new families with recurrent male miscarriages and hypercoiled umbilical cord.
Clin Dysmorphol
; 24(3): 128-31, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25793651