Norah Alsaleh

A novel truncating variant in ring finger protein 113A (<i>RNF113A</i>) confirms the association of this gene with X‐linked trichothiodystrophy

Bryce A. Mendelsohn, Daniah Beleford, Aya Abu‐El‐Haija et al. · American Journal of Medical Genetics Part A · 2019 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

Reza Maroofian, Andrea Gubaš, Rauan Kaiyrzhanov et al. · Brain Communications · 2021 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the <scp><i>KIF4A</i></scp>‐associated phenotype

Silvia Kalantari, Colleen M. Carlston, Norah Alsaleh et al. · American Journal of Medical Genetics Part A · 2021 · 14 citations · Full text

Medicine, Genetics, Molecular Genetics +17