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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations
American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2133-2140
2016
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C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population
Molecular biology reports, 2014, Vol.41 (4), p.2281-2286
2014
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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
Clinical genetics, 2020-11, Vol.98 (5), p.445-456
2020
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X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
Molecular syndromology, 2023-08, Vol.14 (4), p.283-292
2023
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420
2020
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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2885-2896
2011
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A long-term study of bone mineral density in patients with phenylketonuria under diet therapy
Archives of medical science, 2011-06, Vol.7 (3), p.493-500
2011
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Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria
North American journal of medical sciences, 2010-02, Vol.2 (2), p.66-70
2010
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Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet
Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics, 2014-02, Vol.24 (1), p.23-28
2014
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Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome
American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1823-1831
2012
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Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy
The Egyptian journal of medical human genetics, 2013-01, Vol.14 (1), p.37-47
2013
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Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome
American journal of medical genetics. Part A, 2012, Vol.158 (8), p.1823-1831
2012
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Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria
Bratislavské lékarské listy, 2008, Vol.109 (1), p.17-19
2008
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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
American Journal of Medical Genetics Part A, 2011, Vol.155A (11), p.2885-2896
2011
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Schistosoma hematobium soluble egg antigens induce proliferation of urothelial and endothelial cells
World journal of urology, 2001-08, Vol.19 (4), p.263-266
2001
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