Detalhe da pesquisa
1.
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
Clin Genet
; 93(1): 84-91, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390064
2.
Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.
Osteoporos Int
; 29(8): 1833-1841, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796728