Daniella Nishri

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

P. Rosenberg, R. Elhasid, H. Tamary, 2008, Haematologica.

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

N. Shomron, D. Lev, Y. Goldberg, 2022, American journal of medical genetics. Part A.

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

E. Leshinsky‐Silver, D. Lev, S. Zuberi, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

E. Leshinsky‐Silver, D. Lev, M. Henneke, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.