N. Ekhilevitch

发表

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

G. Ast, H. Mandel, D. Oz-Levi, 2016, Clinical genetics.

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

H. Baris, K. Weiss, N. Ekhilevitch, 2018, Rambam Maimonides medical journal.

Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - a case report and review of the literature.

N. Ekhilevitch, D. Tiosano, M. Cohen, 2021, European journal of medical genetics.

A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly

N. Ekhilevitch, A. Kurolap, L. Sagi‐Dain, 2021, American journal of medical genetics. Part A.

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

H. Mandel, H. Baris, N. Ekhilevitch, 2016, American journal of human genetics.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

A. Takata, N. Matsumoto, M. Shiina, 2018, Human molecular genetics.

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel

K. Weiss, N. Ekhilevitch, T. Paperna, 2021, Familial Cancer.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

M. Muenke, H. Baris, K. Weiss, 2020, European journal of medical genetics.

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

A. R. Mohamed, A. Takata, Y. Goshima, 2020, American journal of human genetics.

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant

R. Kolodny, M. Dines, N. Ekhilevitch, 2020, International journal of molecular sciences.

De novo ATP1A3 variants cause polymicrogyria

T. Tsunoda, T. Hara, A. Takata, 2021, Science Advances.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

H. Mandel, N. Matsumoto, M. Shiina, 2017, Journal of Human Genetics.