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Stavit A. Shalev

Technion – Israel Institute of Technology
Emek Medical Center

69

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2198

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An Update on the Cutaneous Manifestations of Darier Disease

2021 Journal of Cutaneous Medicine and Surgery
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Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX With Its Interactors at the Nucleoid and RNA Granule

2021
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073 Molecular epidemiology of epidermolysis bullosa in a Middle Eastern population

2021 Journal of Investigative Dermatology
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MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence.

2021 npj Genomic Medicine
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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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Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle Eastern population.

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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A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.

2020 eLife
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A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/MIDAP

2020 bioRxiv
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