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Orphanet Journal of Rare Diseases|February 28, 2024
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethalityFiras Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, et al.Current Protocols in Cell Biology|October 12, 2020
Proximity Ligation Assay for Detecting Protein-Protein Interactions and Protein Modifications in Cells and Tissues in SituMarihan Hegazy, Eran Cohen-Barak, Jennifer L Koetsier, et al.Experimental Dermatology|August 12, 2022
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplexTamar Koren, Fadia Zagairy, Yasmin Tatour, et al.European Journal of Human Genetics : EJHG|September 17, 2020
Homozygote loss-of-function variants in the human COCH gene underlie hearing lossNada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, et al.Journal of Clinical Medicine|August 26, 2023
Treatment with Methotrexate in Infants and Toddlers with Atopic Dermatitis: A Retrospective Multi-Center StudyJen A Barak Levitt, Sima Alemi, Ayelet Ollech, et al.JAMA Dermatology|March 27, 2024
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 GeneLihi Atzmony, Fadia Zagairy, Banan Mawassi, et al.Clinical and Experimental Dermatology|November 14, 2024
Real-world efficacy and safety of dupilumab for paediatric atopic dermatitis: a multicentre retrospective studyEitan Pirov, Vered Molho-Pessach, Eran Cohen-Barak, et al.Journal of Cutaneous Medicine and Surgery|March 15, 2021
An Update on the Cutaneous Manifestations of Darier DiseaseAlgit Yeshurun, Michael Ziv, Eran Cohen-Barak, et al.Journal of Medical Genetics|June 16, 2022
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegiaEran Cohen-Barak, Nada Danial-Farran, Elana Chervinsky, et al.Developmental Cell|December 10, 2022
Epidermal stratification requires retromer-mediated desmoglein-1 recyclingMarihan Hegazy, Jennifer L Koetsier, Amber L Huffine, et al.Pageof 3