Concepedia
Statistics
Publications
16
Citations
1.2K
H-Index
15
Active since
2013
Affiliations
Cairo University(Current)
National Research Centre
Howard Hughes Medical Institute
University of California San Diego
Federal Ministry of Health
Iman G. Mahmoud is an author at Cairo University specializing in medicine, genetics, and neuropathology.
Top concepts
MedicineGeneticsNeuropathologyNeurologyNeuroscienceNeurogeneticsPathologySocial SciencesCovid-19Virology
Publications per year
2013–2022
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text
Neurological Disorder, Genetics, Network Analysis +18
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 134 citations · Full text
Cell Autophagy, Mitophagy, Biallelic Mutations +10
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Simon Jones, Vassili Valayannopoulos, Eugene Schneider et al. · Genetics in Medicine · 2015 · 113 citations · Full text
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study
Ahmed S. Hassan, Fatma El‐Mougy, Sahar Sharaf et al. · Journal of Medical Screening · 2016 · 70 citations · Full text
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 66 citations · Full text
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