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
3.
Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders.
Neuropediatrics
; 42(1): 35-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21500139
4.
Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
Genet Couns
; 18(2): 217-26, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17710874
5.
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Neurology
; 70(7): 556-65, 2008 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-18268248