Detalhe da pesquisa
1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
2.
Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.
Am J Med Genet A
; 140(3): 233-7, 2006 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16411200