Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
Pediatr Res
; 83(1-1): 119-127, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28820871
3.
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Eur J Med Genet
; 61(12): 765-772, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315939