Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Malki, Liron, Sarig, Ofer, Romano, Maria-Teresa, Méchin, Marie-Claire, Peled, Alon, Pavlovsky, Mor, Warshauer, Emily, Samuelov, Liat, Uwakwe, Laura, Briskin, Valeria, Mohamad, Janan, Gat, Andrea, Isakov, Ofer, Rabinowitz, Tom, Shomron, Noam, Adir, Noam, Simon, Michel, McMichael, Amy, Dlova, Ncoza C, Betz, Regina C, Sprecher, Eli
Published in The New England journal of medicine (28.02.2019)
Published in The New England journal of medicine (28.02.2019)
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Journal Article
Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression
Assaf, Sari, Vodo, Dan, Malovitski, Kiril, Mohamad, Janan, Bergson, Shir, Feller, Yarden, Malki, Liron, Sarig, Ofer, Sprecher, Eli
Published in Scientific reports (08.04.2022)
Published in Scientific reports (08.04.2022)
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Journal Article
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence
Pavlovsky, Mor, Peled, Alon, Sarig, Ofer, Astman, Nadav, Malki, Liron, Meijers, Odile, Assaf, Sari, Schwartz, Janice, Malovitski, Kiril, Hansen, David, Sprecher, Eli, Samuelov, Liat
Published in British journal of dermatology (1951) (01.09.2022)
Published in British journal of dermatology (1951) (01.09.2022)
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Journal Article
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C., Sprecher, Eli
Published in Genetics in medicine (01.07.2020)
Published in Genetics in medicine (01.07.2020)
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Journal Article
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
Mohamad, Janan, Samuelov, Liat, Malchin, Natalia, Rabinowitz, Tom, Assaf, Sari, Malki, Liron, Malovitski, Kiril, Israeli, Shirli, Grafi‐Cohen, Meital, Bitterman‐Deutsch, Ora, Molho‐Pessach, Vered, Cohen‐Barak, Eran, Bach, Gideon, Garty, Ben Zion, Bergman, Reuven, Harel, Avikam, Nanda, Arti, Lestringant, Giles G., McGrath, John, Shalev, Stavit, Shomron, Noam, Mashiah, Jacob, Eskin‐Schwartz, Marina, Sprecher, Eli, Sarig, Ofer
Published in Experimental dermatology (01.09.2021)
Published in Experimental dermatology (01.09.2021)
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Journal Article
Identification and Characterization of gshA, a Gene Encoding the Glutamate-Cysteine Ligase in the Halophilic Archaeon Haloferax volcanii
Malki, Liron, Yanku, Michaela, Borovok, Ilya, Cohen, Gerald, Mevarech, Moshe, Aharonowitz, Yair
Published in Journal of Bacteriology (01.08.2009)
Published in Journal of Bacteriology (01.08.2009)
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Journal Article
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis
Peled, Alon, Sarig, Ofer, Sun, Guangping, Samuelov, Liat, Ma, Chi A., Zhang, Yuan, Dimaggio, Tom, Nelson, Celeste G., Stone, Kelly D., Freeman, Alexandra F., Malki, Liron, Vidal, Lucia Seminario, Chamarthy, Latha M., Briskin, Valeria, Mohamad, Janan, Pavlovsky, Mor, Walter, Jolan E., Milner, Joshua D., Sprecher, Eli
Published in Journal of allergy and clinical immunology (01.01.2019)
Published in Journal of allergy and clinical immunology (01.01.2019)
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Journal Article
Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma
Mohamad, Janan, Sarig, Ofer, Malki, Liron, Rabinowitz, Tom, Assaf, Sari, Malovitski, Kiril, Shkury, Eden, Mayer, Talia, Vodo, Dan, Peled, Alon, Daniely, Daniel, Pavlovsky, Mor, Shomron, Noam, Samuelov, Liat, Sprecher, Eli
Published in Journal of investigative dermatology (01.11.2020)
Published in Journal of investigative dermatology (01.11.2020)
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Journal Article
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Malovitski, Kiril, Sarig, Ofer, Assaf, Sari, Mohamad, Janan, Malki, Liron, Bergson, Shir, Peled, Alon, Eskin-Schwartz, Marina, Gat, Andrea, Pavlovsky, Mor, Sprecher, Eli
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Journal Article
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1
Mohamad, Janan, Samuelov, Liat, Assaf, Sari, Malki, Liron, Malovitski, Kiril, Meijers, Odile, Adir, Noam, Granot, Ester, Pavlovsky, Mor, Sarig, Ofer, Sprecher, Eli
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
Woolly hair in tricho‐dento‐osseous syndrome
Perandones‐González, Héctor, Rusiñol‐Batlle, Lluis, Bosquez, David, Brunet‐Llobet, Lluis, Ivars, Marta, Yubero, Délia, Sarig, Ofer, Malki, Liron, Peled, Alon, Sprecher, Eli, Baselga, Eulalia
Published in Pediatric dermatology (01.11.2023)
Published in Pediatric dermatology (01.11.2023)
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Journal Article
Identification and Characterization of gsh4, a Gene Encoding the Glutamate-Cysteine Ligase in the Halophilic Archaeon Haloferax volcanii
MALKI, Liron, YANKU, Michaela, BOROVOK, Ilya, COHEN, Gerald, MEVARECH, Moshe, AHARONOWITZ, Yair
Published in Journal of bacteriology (2009)
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Published in Journal of bacteriology (2009)
Journal Article
Woolly hair in tricho-dento-osseous syndrome
Perandones-González, Héctor, Rusiñol-Batlle, Lluis, Bosquez, David, Brunet-Llobet, Lluis, Ivars, Marta, Yubero, Délia, Sarig, Ofer, Malki, Liron, Peled, Alon, Sprecher, Eli, Baselga, Eulalia
Published in Pediatric dermatology (01.11.2023)
Published in Pediatric dermatology (01.11.2023)
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