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List of works by Chaim Jalas

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

scientific article

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population

scientific article

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population

scientific article

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

scientific article published on 5 September 2014

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

scientific article published on 24 May 2011

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

DGAT1 mutation is linked to a congenital diarrheal disorder

scientific article

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

scientific article published in April 2012

High-throughput real-time PCR-based genotyping without DNA purification ⬇️

scientific article published on October 19, 2012

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

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