Elisheva Javasky

Ramat Gan, TA, Israel

Last Updated: 09/26/2026

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Found 15 publications

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

Journal: International journal of dermatology

Published: April 07, 2025

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

Journal: Journal of clinical immunology

Published: March 26, 2025

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Journal: Frontiers in pediatrics

Published: December 28, 2021

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 23, 2021

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.

Journal: Clinical and experimental immunology

Published: April 27, 2021

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

Journal: American journal of medical genetics. Part A

Published: April 16, 2021

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Journal: Scientific reports

Published: April 15, 2021

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Journal: Journal of medical genetics

Published: February 09, 2021

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Journal: Molecular genetics and metabolism reports

Published: June 01, 2020

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.

Journal: The Journal of experimental medicine

Published: May 24, 2020

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.

Journal: Frontiers in immunology

Published: March 30, 2020

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Journal: The Journal of clinical investigation

Published: March 19, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026