Nurit Assia Batzir

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian Thalhammer, Gerhard Kindle, Alexandra Nieters et al. · Journal of Allergy and Clinical Immunology · 2021 · 161 citations · Full text

Vaccination, Primary Immunodeficiency, Maternal Immunization +12

Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)

Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song et al. · American Journal of Medical Genetics Part A · 2019 · 60 citations · Full text

Recurrent arginine substitutions in the <i>ACTG2</i> gene are the primary driver of disease burden and severity in visceral myopathy

Nurit Assia Batzir, Pranjali Bhagwat, Austin Larson et al. · Human Mutation · 2019 · 43 citations · Full text

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings.

Nurit Assia Batzir, Mordechai Shohat, Idit Maya · PubMed · 2015 · 34 citations

Genetic Testing, Genetics, Dna Microarrays +23

De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizures

Nurit Assia Batzir, Pranjali Bhagwat, Tanya N. Eble et al. · Molecular Case Studies · 2019 · 34 citations · Full text