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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

Molecular genetics & genomic medicine, 2024-10, Vol.12 (10), p.e70023-n/a

2024

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Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

The Egyptian journal of medical human genetics, 2016-04, Vol.17 (2), p.233-238

2016

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Novel PITX2 gene mutations in patients with Axenfeld‐Rieger syndrome

Acta ophthalmologica (Oxford, England), 2016-11, Vol.94 (7), p.e571-e579

2016

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Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

European journal of pediatrics, 2015-01, Vol.174 (1), p.105-112

2015

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A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family

Archives of oral biology, 2014-07, Vol.59 (7), p.722-728

2014

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De novo EDA mutations: Variable expression in two Egyptian families

Archives of oral biology, 2016-08, Vol.68, p.21-28

2016

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A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome

Molecular syndromology, 2014-12, Vol.5 (6), p.304-306

2014

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Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

Journal of pediatric genetics (Birmingham, Ala.), 2017-06, Vol.6 (2), p.118-121

2017

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Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families

European journal of obstetrics & gynecology and reproductive biology, 2012-10, Vol.164 (2), p.211-215

2012

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β-Globin Mutations in Egyptian Patients With β-Thalassemia

Laboratory medicine, 2015-02, Vol.46 (1), p.8-13

2015

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Postmortem clinical examination by experienced clinical geneticists as an alternative to conventional autopsy for assessment of fetal and perinatal deaths in countries with limited resources

Turkish journal of pediatrics, 2015-03, Vol.57 (2), p.146-153

2015

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Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss

International journal of molecular epidemiology and genetics, 2014-01, Vol.5 (4), p.200-204

2014

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Homozygosity for a Robertsonian Translocation (13q;14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses

Laboratory medicine, 2013-08, Vol.44 (3), p.254-257

2013

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Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method

Journal of the Egyptian Public Health Association, 2008, Vol.83 (3-4), p.239-254

Abdalla, Ebtesam M

2008

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Novel PITX 2 gene mutations in patients with Axenfeld‐Rieger syndrome

Acta ophthalmologica (Oxford, England), 2016-11, Vol.94 (7)

2016

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Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome

Clinical genetics, 2013-09, Vol.84 (3), p.300-301

2013

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[Beta]-Globin Mutations in Egyptian Patients With [Beta]-Thalassemia

Laboratory medicine, 2015-01, Vol.46 (1), p.8

2015

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Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

Journal of pediatric genetics, 2017, Vol.6 (2), p.118-121

2017

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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1207425-1207425

2023

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A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Journal of human genetics, 2024-07

2024

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Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome

Journal of human genetics, 2024-11

2024

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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding

The morbid genome of ciliopathies: an update

The morbid genome of ciliopathies: an update

Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

The morbid genome of ciliopathies: an update

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Novel PITX2 gene mutations in patients with Axenfeld‐Rieger syndrome

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family

De novo EDA mutations: Variable expression in two Egyptian families

A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome

Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families

β-Globin Mutations in Egyptian Patients With β-Thalassemia

Postmortem clinical examination by experienced clinical geneticists as an alternative to conventional autopsy for assessment of fetal and perinatal deaths in countries with limited resources

Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss

Homozygosity for a Robertsonian Translocation (13q;14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses

Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method

Novel PITX 2 gene mutations in patients with Axenfeld‐Rieger syndrome

Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome

[Beta]-Globin Mutations in Egyptian Patients With [Beta]-Thalassemia

Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome

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