Barak Yaacov

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 13 publications

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Journal: Clinical genetics
Published: March 08, 2016

Cytokine secretion and NK cell activity in human ADAM17 deficiency.

Cytokine secretion and NK cell activity in human ADAM17 deficiency.

Journal: Oncotarget
Published: August 26, 2015

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Journal: Neurogenetics
Published: July 28, 2015

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

Journal: Journal of medical genetics
Published: June 24, 2015

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Journal: Journal of medical genetics
Published: March 05, 2015

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

Journal: Neurogenetics
Published: March 03, 2015

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.

Journal: Haematologica
Published: November 16, 2014

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

Journal: Journal of assisted reproduction and genetics
Published: October 29, 2014

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Journal: Neurogenetics
Published: August 08, 2014

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

Journal: Journal of medical genetics
Published: July 24, 2014

A human laterality disorder associated with a homozygous WDR16 deletion.

A human laterality disorder associated with a homozygous WDR16 deletion.

Journal: European journal of human genetics : EJHG
Published: July 20, 2014

Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Journal: Gastroenterology
Published: March 24, 2014
Showing 1-12 of 13

Last Updated: 09/26/2026