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Showing results (11-20 of 17) with videos related to

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Molecular Neurobiology|April 22, 2025
Insight into Apert Syndrome: Reporting on Six Patients and Increasing AwarenessHala T El-Bassyouni, Ghada Y El-Kamah, Hanan H Afifi, et al.
Congenital Anomalies|December 30, 2015
Expanding the mutation and clinical spectrum of Roberts syndromeHanan H Afifi, Ghada M H Abdel-Salam, Maha M Eid, et al.
American Journal of Medical Genetics. Part A|August 19, 2015
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutationsMona Aglan, Khalda Amr, Samira Ismail, et al.
Genes|September 28, 2021
Gene Mutations of the Three Ectodysplasin Pathway Key Players (<i>EDA</i>, <i>EDAR</i>, and <i>EDARADD</i>) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel MutationsHoda A Ahmed, Ghada Y El-Kamah, Eman Rabie, 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.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATIONS Ismail, M Essawi, N Sedky, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Molecular Neurobiology|April 22, 2025
Insight into Apert Syndrome: Reporting on Six Patients and Increasing AwarenessHala T El-Bassyouni, Ghada Y El-Kamah, Hanan H Afifi, et al.
Congenital Anomalies|December 30, 2015
Expanding the mutation and clinical spectrum of Roberts syndromeHanan H Afifi, Ghada M H Abdel-Salam, Maha M Eid, et al.
American Journal of Medical Genetics. Part A|August 19, 2015
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutationsMona Aglan, Khalda Amr, Samira Ismail, et al.
Genes|September 28, 2021
Gene Mutations of the Three Ectodysplasin Pathway Key Players (<i>EDA</i>, <i>EDAR</i>, and <i>EDARADD</i>) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel MutationsHoda A Ahmed, Ghada Y El-Kamah, Eman Rabie, 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.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATIONS Ismail, M Essawi, N Sedky, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
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