Aisha Al‐Khayat

Human  -Mannosidase cDNA Characterization and First Identification of a Mutation Associated with Human  -Mannosidosis

Aisha Al‐Khayat, Susanne A. Kraemer, Jeffrey R. Leipprandt et al. · Human Molecular Genetics · 1998 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi et al. · Brain · 2016 · 78 citations · Full text

Life Sciences, Genetics, Neurology +16

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro et al. · Brain · 2017 · 75 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Barry A. Chioza, Anna Rajab, Klaus Schmitz‐Abe et al. · Neurology · 2015 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population

Mehmet Şımşek, Nadia Al-Wardy, Aisha Al‐Khayat et al. · Human Mutation · 2001 · 46 citations · Full text

Life Sciences, Genetics, Human Genetics +8