Lina Basel-Salmon

Petah Tiqwa, M, Israel

Last Updated: 09/26/2026

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Found 28 publications

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 26, 2018

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Journal: Human genetics

Published: December 20, 2014

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Journal: Human genetics

Published: December 16, 2013

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Journal: American journal of human genetics

Published: April 30, 2013

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Journal: American journal of human genetics

Published: May 31, 2012

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Journal: Pediatric dermatology

Published: October 15, 2011

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

Journal: American journal of human genetics

Published: September 01, 2011

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

Journal: Journal of child neurology

Published: January 08, 2011

Familial hydrocephalus with normal cognition and distinctive radiological features.

Familial hydrocephalus with normal cognition and distinctive radiological features.

Journal: American journal of medical genetics. Part A

Published: October 28, 2010

Acute lymphoblastic leukemia in Weaver syndrome.

Acute lymphoblastic leukemia in Weaver syndrome.

Journal: American journal of medical genetics. Part A

Published: January 27, 2010

Clinical and brain imaging heterogeneity of severe microcephaly.

Clinical and brain imaging heterogeneity of severe microcephaly.

Journal: Pediatric neurology

Published: November 25, 2009

Keppen-Lubinsky syndrome: Expanding the phenotype.

Keppen-Lubinsky syndrome: Expanding the phenotype.

Journal: American journal of medical genetics. Part A

Published: July 18, 2009

Showing 1-12 of 28

Last Updated: 09/26/2026