Margarita Indelman

Technion Rambam Health Care Campus HaAliya HaShniya St 8, Haifa POB 9602 Haifa 31096 Israel
Haifa, HA 31096, Israel

Last Updated: 09/26/2026

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Found 15 publications

The histopathology and phenotypic variability in H syndrome.

The histopathology and phenotypic variability in H syndrome.

Journal: Clinical case reports

Published: July 21, 2017

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.

Journal: International journal of dermatology

Published: March 17, 2017

Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.

Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.

Journal: The American Journal of dermatopathology

Published: January 31, 2016

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

Journal: The British journal of dermatology

Published: January 19, 2016

Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.

Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.

Journal: The American Journal of dermatopathology

Published: April 04, 2015

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Journal: European journal of medical genetics

Published: July 02, 2014

Human amnion membrane as a substrate for the detection of autoantibodies in pemphigus vulgaris and bullous pemphigoid.

Human amnion membrane as a substrate for the detection of autoantibodies in pemphigus vulgaris and bullous pemphigoid.

Journal: The Israel Medical Association journal : IMAJ

Published: May 20, 2014

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Journal: The Journal of investigative dermatology

Published: January 28, 2014

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 19, 2013

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

Journal: Dermatology (Basel, Switzerland)

Published: July 14, 2013

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.

Journal: Experimental dermatology

Published: February 07, 2013

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Journal: Clinical and experimental dermatology

Published: January 03, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026