Detalhe da pesquisa
1.
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Clin Genet
; 98(5): 445-456, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740904
2.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267100
3.
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Am J Med Genet A
; 170(8): 2133-40, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27250695
4.
C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population.
Mol Biol Rep
; 41(4): 2281-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415302
5.
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Mol Syndromol
; 14(4): 283-292, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37766829
6.
Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.
Am J Med Genet A
; 158A(8): 1823-31, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786707
7.
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Am J Med Genet A
; 155A(11): 2885-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990275
8.
Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet.
Iran J Pediatr
; 24(1): 23-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25793041
9.
A long-term study of bone mineral density in patients with phenylketonuria under diet therapy.
Arch Med Sci
; 7(3): 493-500, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22295034
10.
Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria.
N Am J Med Sci
; 2(2): 66-70, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22624117