Iris Noyman

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

Imaging blood–brain barrier dysfunction as a biomarker for epileptogenesis

Guy Bar‐Klein, Svetlana Lublinsky, Lyna Kamintsky et al. · Brain · 2017 · 131 citations · Full text

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

Miora Feinstein, Barak Markus, Iris Noyman et al. · The American Journal of Human Genetics · 2010 · 82 citations · Full text

<i>UNC80</i> mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel <i>NALCN</i>

Yonatan Perez, Rotem Kadir, Michael Volodarsky et al. · Journal of Medical Genetics · 2015 · 49 citations

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

Daniella Nishri, Hadassa Goldberg‐Stern, Iris Noyman et al. · European Journal of Paediatric Neurology · 2016 · 31 citations

Rars2 Mutations, Neurobiology Of Disease, Neurological Disorder +11