Alice Abdel Aleem

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

<i>AHI1</i> gene mutations cause specific forms of Joubert syndrome–related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy et al. · Annals of Neurology · 2006 · 138 citations

Mutation in noncoding <scp>RNA RNU12</scp> causes early onset cerebellar ataxia

Mahmoud F. Elsaid, Nader Chalhoub, Tawfeg Ben‐Omran et al. · Annals of Neurology · 2016 · 89 citations

Identification of a novel recessive <i>RELN</i> mutation using a homozygous balanced reciprocal translocation

Maha S. Zaki, Marwa Shehab, Alice Abdel Aleem et al. · American Journal of Medical Genetics Part A · 2007 · 70 citations

The molar tooth sign

Maha S. Zaki, Alice Abdel Aleem, Ghada M. H. Abdel‐Salam et al. · Neurology · 2008 · 47 citations

Mendelian Disorder, Related Cerebellar Disorders, Joubert Syndrome +14