Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants by Khalda Amr, Nagia Fahmy, Ghada El-Kamah

Get full text

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature by Hoda A. Ahmed, R. Elhossini, M. Aglan, Khalda Amr

Get full text

DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences by Rehab Mosaad, Ghada El-Kamah, Maha Eid, Khalda Amr

Get full text

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family by Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El‐Kamah

Get full text

Genetic susceptibility for insulin resistance among Egyptian women by Moushira Errfan Zaki, Khalda Amr, Asmaa E. Elkhouly, Naglaa Abu-Mandil Hassan

Get full text

Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women by Moushira Zaki, Sanaa Kamal, Walaa A. Basha, Eman Youness, Wafaa Ezzat, Hala El-Bassyouni, Khalda Amr

Get full text

Higher Expression of Toll-like Receptors 3, 7, 8, and 9 in Pityriasis Rosea by Mostafa Abou El-Ela, Mohamed El-Komy, Rania Abdel Hay, Rehab Hegazy, Amin Sharobim, Laila Rashed, Khalda Amr

Get full text

Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations by Hoda A. Ahmed, Fatina I. Fadel, Mohamed A. Abdel Mawla, Doaa M. Salah, Mohamed Gamal Fathallah, Khalda Amr

Get full text