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Journal, Genetic Engineering & Biotechnology|December 14, 2024
Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variantsKhalda Amr, Nagia Fahmy, Ghada El-KamahJournal, Genetic Engineering & Biotechnology|December 14, 2024
DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferencesRehab Mosaad, Ghada El-Kamah, Maha Eid, et al.Molecular Genetics & Genomic Medicine|May 31, 2019
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian familyKhalda Amr, Patrycja Pawlikowska, Said Aoufouchi, et al.Hemoglobin|April 26, 2017
Quality of Life Outcomes in a Pediatric Thalassemia Population in EgyptSoheir Adam, Hanan Afifi, Manal Thomas, et al.Gene|October 19, 2013
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patientsKhalda Amr, Olfa Messaoud, Mohamad El Darouti, et al.Annual Review of Genomics and Human Genetics|May 1, 2019
Consanguinity and Inbreeding in Health and Disease in North African PopulationsLilia Romdhane, Nessrine Mezzi, Yosr Hamdi, et al.Genes|March 6, 2021
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral OriginsEman Rabie, Khalda Amr, Suher Zada, et al.Stem Cells (Dayton, Ohio)|November 22, 2016
Concise Review: Getting to the Core of Inherited Bone Marrow FailuresSoheir Adam, Dario Melguizo Sanchis, Ghada El-Kamah, et al.Clinical Laboratory|February 28, 2007
Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patientsKhaled R Gaber, Mona K Farag, Somaya E T Soliman, et al.American Journal of Medical Genetics. Part A|August 13, 2019
Lenz-Majewski syndrome in a patient from EgyptHanan H Afifi, Mohamed S Abdel-Hamid, Mennat I Mehrez, et al.Pageof 3