Adi Har‐Zahav

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in <i>PIGN</i>

G. Maydan, Iris Noyman, Adi Har‐Zahav et al. · Journal of Medical Genetics · 2011 · 149 citations

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel‐Vanagaite, Bruno Dallapiccola, Ramiro Ramírez‐Solis et al. · The American Journal of Human Genetics · 2012 · 95 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +6

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Guntram Borck, Byung‐Sik Shin, Barbara Stiller et al. · Molecular Cell · 2012 · 88 citations · Full text

Translational Biology, Genetic Disorder, Genetics +8

apoB and apobec1, two genes key to lipid metabolism, are transcriptionally regulated by p53

Osnat Ashur‐Fabian, Adi Har‐Zahav, Aviv Shaish et al. · Cell Cycle · 2010 · 42 citations · Full text

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

Shlomit Hellman-Aharony, Pola Smirin‐Yosef, Ayelet Halevy et al. · Pediatric Neurology · 2013 · 41 citations

Neurological Disorder, Mutated Taf2, Neuroscience +4