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Nada Danial-Farran

Emek Medical Center

13

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33

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175 Concomitant LZTR1 and NF1 mutations contribute to the diversity of the Neurofibromatosis 1 phenotypic spectrum

2021 Journal of Investigative Dermatology
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Author response for "The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes"

2021
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Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.

2021 Experimental Dermatology
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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

2020 European Journal of Human Genetics
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

2020 Clinical Genetics
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The role of Desmoglein 1 in gap junction turnover revealed through the study of SAM syndrome

2019 Journal of Investigative Dermatology
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A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement

2019 JAMA Dermatology
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735 Expanding the phenotypic spectrum of junctional epidermolysis bullosa with respiratory and renal involvement (JEB-RR)

2018 Journal of Investigative Dermatology
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Genetic variants associated with susceptibility of Ashkenazi Jews to West Nile virus infection.

2015 Epidemiology and Infection
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