Detalhe da pesquisa
1.
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
Am J Med Genet A
; 155A(8): 1917-22, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21739589
2.
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Eur J Med Genet
; 48(2): 97-111, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16053902
3.
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.
Clin Dysmorphol
; 19(3): 123-127, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20305547