Madiha Mohamed

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

Fatma Bastaki, Pratibha Nair, Madiha Mohamed et al. · BMC Medical Genetics · 2017 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

Fatma Bastaki, Sami Bizzari, Sana Hamici et al. · Annals of Human Genetics · 2017 · 28 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

Tasneem Obeid, Abdul Rezzak Hamzeh, Fatima Saif et al. · Metabolic Brain Disease · 2018 · 24 citations

Life Sciences, Genetics, Molecular Genetics +12

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing

Fatma Bastaki, Madiha Mohamed, Pratibha Nair et al. · Molecular and Cellular Probes · 2015 · 19 citations

Life Sciences, Genetics, Molecular Genetics +14

Expanded PCH1D phenotype linked to EXOSC9 mutation

Sami Bizzari, Abdul Rezzak Hamzeh, Madiha Mohamed et al. · European Journal of Medical Genetics · 2019 · 19 citations

Life Sciences, Genetics, Molecular Genetics +7