Mennat Mehrez

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

José A. Caparrós‐Martín, Alessandro De Luca, François Cartault et al. · Human Molecular Genetics · 2015 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

Hoda A. Ahmed, Ghada El‐Kamah, Eman Rabie et al. · Genes · 2021 · 21 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Expanding the mutation and clinical spectrum of Roberts syndrome

Hanan H. Afifi, Ghada M. H. Abdel‐Salam, Maha M. Eid et al. · Congenital Anomalies · 2015 · 19 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

Ghada A. Otaify, Mohamed S. Abdel‐Hamid, Mennat Mehrez et al. · Osteoporosis International · 2018 · 18 citations

Life Sciences, Genetics, Molecular Genetics +6