Fatima Saif

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

United Arab Emirates, Genetics, Glycobiology +19

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

Genetic Disorder, Medicine, Genetics +9

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 · 16 citations

Developmental Anomaly, Mendelian Disorder, Psychiatry +10

Novel splice‐site mutation in <scp><i>WDR</i></scp><i>62</i> revealed by whole‐exome sequencing in a <scp>S</scp>udanese family with primary microcephaly

Fatma Bastaki, Madiha Mohamed, Pratibha Nair et al. · Congenital Anomalies · 2015 · 14 citations · Full text

Sudanese Siblings, Brain Development, Genetics +18

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome

Abdul Rezzak Hamzeh, Pratibha Nair, Madiha Mohamed et al. · European Journal of Medical Genetics · 2016 · 13 citations

Mendelian Disorder, Genetic Disorder, Yemeni Family +6