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Maha M Eid

Showing results (21-30 of 31) with videos related to

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American Journal of Medical Genetics. Part A|June 3, 2015
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial featuresHanan H Afifi, Ryoko Fukai, Noriko Miyake, et al.
Journal, Genetic Engineering & Biotechnology|November 28, 2023
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patientsMona F Sokkar, Mona Hamdy, Peter Sf Erian, et al.
Prenatal Diagnosis|January 20, 2020
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associationsSara H El-Dessouky, Mona M Aboulghar, Hassan M Gaafar, et al.
The Egyptian Journal of Immunology|April 26, 2025
Celiac disease risk HLA-DQ haplotypes in an Egyptian cohort using multiplex ligation-dependent probe amplificationMarwa Farid, Ola M Eid, Rania M A Abdel Kader, et al.
Journal of Human Genetics|June 24, 2026
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSISara H El-Dessouky, Wessam E Sharaf-Eldin, Islam F Soliman, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2Mona El-Ruby, Alaa El-Din Fayez, Sara H El-Dessouky, et al.
Molecular Genetics & Genomic Medicine|October 5, 2021
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephalyAmal M Mohamed, Alaa K Kamel, Maha M Eid, et al.
Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Ophthalmic Genetics|March 8, 2026
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal contextSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Prenatal Diagnosis|December 5, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder EffectSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|June 3, 2015
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial featuresHanan H Afifi, Ryoko Fukai, Noriko Miyake, et al.
Journal, Genetic Engineering & Biotechnology|November 28, 2023
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patientsMona F Sokkar, Mona Hamdy, Peter Sf Erian, et al.
Prenatal Diagnosis|January 20, 2020
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associationsSara H El-Dessouky, Mona M Aboulghar, Hassan M Gaafar, et al.
The Egyptian Journal of Immunology|April 26, 2025
Celiac disease risk HLA-DQ haplotypes in an Egyptian cohort using multiplex ligation-dependent probe amplificationMarwa Farid, Ola M Eid, Rania M A Abdel Kader, et al.
Journal of Human Genetics|June 24, 2026
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSISara H El-Dessouky, Wessam E Sharaf-Eldin, Islam F Soliman, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2Mona El-Ruby, Alaa El-Din Fayez, Sara H El-Dessouky, et al.
Molecular Genetics & Genomic Medicine|October 5, 2021
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephalyAmal M Mohamed, Alaa K Kamel, Maha M Eid, et al.
Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Ophthalmic Genetics|March 8, 2026
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal contextSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Prenatal Diagnosis|December 5, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder EffectSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Pageof 4