المؤلفون: Eran Cohen-Barak, Nada Danial-Farran, Helwa Hammad, Ola Aleme, Judith Krauz, Ester Gavish, Morad Khayat, Michael Ziv, Stavit Shalev

المصدر: Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 809-810 (2018)

مصطلحات موضوعية: Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2976; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/bb78a597b2704d39b1bc61dfcfec2228

المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello

المصدر: The American Journal of Human Genetics. 110:681-690

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005

المؤلفون: Eran Cohen‐Barak, Hagit Toledano‐Alhadef, Nada Danial‐Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni‐Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev

المصدر: Experimental Dermatology. 31:775-780

مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Heterozygote, Neurofibromatosis 1, Neurofibromin 1, Humans, Female, Dermatology, Protein Kinase Inhibitors, Molecular Biology, Biochemistry, GTP-Binding Protein alpha Subunits, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d53c3f7858140003fb986693027ca7
https://doi.org/10.1111/exd.14514

المؤلفون: Tamar Koren, Fadia Zagairy, Yasmin Tatour, Hila Belhanes‐Peled, Morad Khayat, Judit Krausz, Nada Danial‐Farran, Michael Ziv, Eran Cohen‐Barak

المصدر: Experimental dermatologyREFERENCES. 31(12)

مصطلحات موضوعية: Keratinocytes, Hypopigmentation, Cicatrix, Blister, Child, Preschool, Epidermolysis Bullosa Simplex, Humans, Female, Dermatology, Epidermolysis Bullosa, Molecular Biology, Biochemistry, Adaptor Proteins, Signal Transducing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cec560269b44bcfbcb196cf9f0a0dc
https://pubmed.ncbi.nlm.nih.gov/35960249

المؤلفون: Eran Cohen Barak, Morad Khayat, Nada Danial-Farran, Prathamesh T Nadar-Ponniah, Elena Chervinsky, Stavit A. Shalev, Shahar Taiber, Karen B. Avraham

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Hearing loss, Hearing Loss, Sensorineural, Mutant, Biology, Brief Communication, Cell Line, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Humans, Frameshift Mutation, Hearing Loss, Gene, Genetics (clinical), Loss function, Extracellular Matrix Proteins, 0303 health sciences, Homozygote, 030305 genetics & heredity, Heterozygote advantage, Translation (biology), Pedigree, Vestibular Diseases, medicine.symptom, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e70ef2b0ed5b6132f13e65becd45842
https://doi.org/10.1038/s41431-020-00724-6

المؤلفون: Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat

المصدر: Clin Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Hearing loss, Genetic counseling, Population, Genomics, Deafness, 030105 genetics & heredity, Biology, Article, Young Adult, 03 medical and health sciences, Genotype, Basic Helix-Loop-Helix Transcription Factors, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Israel, Allele, Child, Hearing Loss, education, Genetic Association Studies, Genetics (clinical), Newborn screening, education.field_of_study, Massive parallel sequencing, Pedigree, 030104 developmental biology, Child, Preschool, Jews, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7
https://doi.org/10.1111/cge.13817

المؤلفون: Nada Danial Farran

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f02a572455b491f3872fe49312a88ec
https://doi.org/10.1111/cge.14228/v1/review1

المؤلفون: Eran, Cohen-Barak, Nada, Danial-Farran, Elana, Chervinsky, Ola, Alimi-Kasem, Fadia, Zagairy, Ido, Livneh, Bannan, Mawassi, Maysa, Hreish, Morad, Khayat, Alexander, Lossos, Vardiella, Meiner, Nina, Ehilevitch, Karin, Weiss, Stavit, Shalev

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6171447e2629937ed8c34e6283dc2eb6
https://pubmed.ncbi.nlm.nih.gov/35710109

المؤلفون: Eran Cohen‐Barak, Bannan Mwassi, Fadia Zagairy, Nada Danial‐Farran, Morad Khayat, Yasmin Tatour, Michael Ziv

المصدر: The Journal of dermatologyREFERENCES. 49(3)

مصطلحات موضوعية: Connexin 26, Parents, Mosaicism, Mutation, Humans, Ichthyosis, Dermatology, General Medicine, Deafness, Child, Nevus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5705948bbdc8e703bd038cc03943b7
https://pubmed.ncbi.nlm.nih.gov/34889473

المؤلفون: Morad Khayat, Yoav Zehavi, Olfat Abu-Leil Zouabi, Lilach Peled-Peretz, Joël Zlotogora, Shadia Hakrosh, Nada Danial-Farran, Liron Tamir, Stavit A. Shalev, Efrat Mamlouk, Chen Gafni-Amsalem, Elena Chervinsky

مصطلحات موضوعية: Genetics, Population screening, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d62db565860b741c5a83ce0051a4c3d
https://doi.org/10.1111/cge.14032/v3/response1

المؤلفون: Lilach Peled-Peretz, Joël Zlotogora, Morad Khayat, Liron Tamir, Shadia Hakrosh, Yoav Zehavi, Nada Danial-Farran, Olfat Abu-Leil Zouabi, Chen Gafni-Amsalem, Efrat Mamlouk, Elena Chervinsky, Stavit A. Shalev

المصدر: Clinical geneticsREFERENCES. 100(5)

مصطلحات موضوعية: Adult, Male, Reproductive Isolation, Genetic counseling, Population, Inheritance Patterns, Genes, Recessive, Consanguinity, Biology, Young Adult, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Israel, education, Exome, Genetics (clinical), Exome sequencing, Alleles, education.field_of_study, Middle Aged, Genetics, Population, Amino Acid Substitution, Endogamy, Clinical diagnosis, Mutation, Female, Population screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c6031a7bde99ceafbc690376ff2cb
https://pubmed.ncbi.nlm.nih.gov/34297361

المؤلفون: Michael Ziv, Natalia Edison, Judith Krausz, Morad Khayat, Akiharu Kubo, Eran Cohen-Barak, Moran Barcan, Lisa M. Godsel, Wassim Azzam, Nada Danial-Farran, Maysa Hriesh, Jennifer L. Koetsier, Stavit Allon-Shalev, Chen Gafni-Amsalem

المصدر: Exp Dermatol

مصطلحات موضوعية: Keratinocytes, Pathology, medicine.medical_specialty, Serine Proteinase Inhibitors, Erythema, Keratosis, medicine.medical_treatment, Dermatology, Biochemistry, Skin Diseases, Article, Desquamation, Keratoderma, Palmoplantar, medicine, Humans, Keratoderma, Molecular Biology, Serpins, Protease, integumentary system, business.industry, Homozygote, medicine.disease, medicine.anatomical_structure, Desmoglein 1, medicine.symptom, Atrophy, Keratinocyte, business, Epidermal thickening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdea3f669eb63576970af6ae3fbfa140
https://pubmed.ncbi.nlm.nih.gov/34379845

المؤلفون: Morad Khayat, Nada Danial-Farran, Karen B. Avraham, Prathamesh T Nadar-Ponniah, Stavit A. Shalev, Elena Chervinsky, Eran Cohen Barak, Shahar Taiber

مصطلحات موضوعية: Genetics, Hearing loss, Mutant, medicine, Translation (biology), Heterozygote advantage, Biology, medicine.symptom, Gene, Function (biology), Loss function, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f652399d212e2f627b91dc20f78dd7b
https://doi.org/10.1101/2020.06.29.178053

المؤلفون: Noam Shomron, Mor Bordeynik-Cohen, Lara Kamal, Dror Gilony, Ryan J. Carlson, Morad Khayat, Asgeir Orn Arnporsson, Tom Walsh, Silvia Casadei, Naama Zvi, Noga Lipschitz, Hana Poran, Michal Sagi, Maria Birkan, Weise Chang, Ory Madgar, Amihood Singer, Shahar Taiber, Ronna Hertzano, Noa Ruhrman-Shahar, Ophir Handzel, Eiríkur Steingrímsson, Moien Kanaan, Michael Wolf, Hagit Baris-Feldman, Amir Peleg, Chana Vinkler, Bella Davidov, Michal Macarov, Stavit Allon-Shalev, Nadra Samara, Ming Lee, Reuven Sharony, Meirav Sokolov, Elon Pras, Karen B. Avraham, Zippora Brownstein, Fabio Tadeu Arrojo Martins, Efrat Sofrin, Matthew W. Kelley, Dorit Lev, Mordechai Shohat, Moshe Frydman, Lina Basel-Salmon, Ofer Isakov, Mary Claire King, Nada Danial-Farran, Amal Abu Rayyan, Suleyman Gulsuner, Doaa Ali-Naffaa

مصطلحات موضوعية: Genetics, Newborn screening, education.field_of_study, Hearing loss, Genetic counseling, Population, Biology, Phenotype, Genotype, otorhinolaryngologic diseases, medicine, Allele, medicine.symptom, education, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21fce4c73e992b5baf03f30eb98b1863
https://doi.org/10.1101/2020.06.11.144790

المؤلفون: Elena Chervinsky, Zippora Brownstein, Ola Aleme, Morad Khayat, Tom Walsh, Luna Tammer, Olfat Aboleile Zoubi, Gil Ast, Karen B. Avraham, Suleyman Gulsuner, Stavit A. Shalev, Mary Claire King, Nada Danial-Farran

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, MYO15A, Hearing loss, Population, Nerve Tissue Proteins, Biology, Myosins, Article, Connexins, 03 medical and health sciences, symbols.namesake, Mutation Rate, Genetics, OTOF, medicine, otorhinolaryngologic diseases, Humans, Allele, Israel, education, Hearing Loss, Genetics (clinical), Sanger sequencing, education.field_of_study, Genetic heterogeneity, GTPase-Activating Proteins, Membrane Proteins, Exon skipping, 3. Good health, Arabs, Pedigree, Connexin 26, 030104 developmental biology, HEK293 Cells, Sulfate Transporters, symbols, Female, medicine.symptom, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1f4ab0d3b6bc1d286445440bc4ae2d
http://europepmc.org/articles/PMC6244407

المؤلفون: P. Sergei, Michael Ziv, Morad Khayat, Nada Danial-Farran, E. Cohen Barak, B. Mwassi, Stavit A. Shalev, H. Toledano-Alhadief

المصدر: Journal of Investigative Dermatology. 141:S178

مصطلحات موضوعية: Genetics, media_common.quotation_subject, Cell Biology, Dermatology, Biology, medicine.disease, Biochemistry, Phenotype, Concomitant, medicine, Neurofibromatosis, Molecular Biology, Diversity (politics), media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f6c977efc06927fffc2781c6a6f5c6f
https://doi.org/10.1016/j.jid.2021.08.179

المؤلفون: Jennifer L. Koetsier, Jodi L. Johnson, Marihan Hegazy, Robert M. Harmon, Morad Khayat, Michael Ziv, Alon Peled, Kathleen J. Green, Lisa M. Godsel, Daniella Kushnir-Grinbaum, Stavit A. Shalev, Ofer Sarig, Eli Sprecher, Eran Cohen-Barak, Nada Danial-Farran, Mati Rozenblat, R. Bochner, Helwe Hammad, Judit Krausz

المصدر: J Invest Dermatol

مصطلحات موضوعية: Keratinocytes, Male, 0301 basic medicine, Biopsy, Connexin, Dermatitis, Biochemistry, 0302 clinical medicine, Erythrokeratodermia variabilis, Phosphorylation, Child, Protein Kinase C, Skin, integumentary system, biology, Tight junction, Protein Stability, Chemistry, Desmoglein 1, Gap junction, Gap Junctions, Cell biology, Child, Preschool, 030220 oncology & carcinogenesis, cardiovascular system, Female, biological phenomena, cell phenomena, and immunity, Adult, Adolescent, Primary Cell Culture, Dermatology, Protein degradation, Article, Cell Line, Adherens junction, Young Adult, 03 medical and health sciences, Hypersensitivity, medicine, Humans, Molecular Biology, Wasting Syndrome, Desmoplakin, Cell Biology, medicine.disease, 030104 developmental biology, Connexin 43, Mutation, Proteolysis, biology.protein, sense organs, Lysosomes, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2d8da68752a6339118e9e6d75c6c60
https://doi.org/10.1016/j.jid.2019.08.433

المؤلفون: Naiel Bisharat, Saleh Eghbaria, Z. Kra-Oz, Nada Danial-Farran, N. Schwartz

المصدر: Epidemiol Infect

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Epidemiology, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, Polymorphism (computer science), Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Israel, Disease burden, Aged, Aged, 80 and over, Odds ratio, Middle Aged, Original Papers, Virology, Ashkenazi jews, Infectious Diseases, Case-Control Studies, Jews, Cohort, Female, West Nile virus, West Nile Fever

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a2101c585ce721cea14ce7990d401a
https://doi.org/10.1017/s0950268814001290

المؤلفون: Michael Ziv, Eran Cohen-Barak, Ola Aleme, Morad Khayat, Stavit A. Shalev, Nada Danial-Farran, Judith Krauz, Helwa Hammad, Ester Gavish

المصدر: Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 809-810 (2018)

مصطلحات موضوعية: 0301 basic medicine, Heredity, DNA Mutational Analysis, Dermatology, medicine.disease_cause, Desmoglein, Keratosis pilaris atrophicans, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Darier Disease, medicine, lcsh:Dermatology, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetics, business.industry, General Medicine, lcsh:RL1-803, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Mutation (genetic algorithm), Mutation, Desmoglein 4, Female, Eyebrows, business, Desmogleins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67fcc3702f548ea1ba107b4e5e13b1e7
https://doaj.org/article/bb78a597b2704d39b1bc61dfcfec2228

المؤلفون: Eran Cohen-Barak, Morad Khayat, Elana Chervinsky, Judith M. Nevet, Michael Ziv, Nada Danial-Farran, Stavit A. Shalev

المصدر: JAMA Dermatology. 155:498

مصطلحات موضوعية: Lung Diseases, Male, medicine.medical_specialty, Adolescent, business.industry, Dermatology, medicine.disease, Junctional epidermolysis bullosa (medicine), medicine, Humans, Kidney Diseases, Epidermolysis bullosa, Respiratory system, Epidermolysis Bullosa, Junctional, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8a75a7090c3a88df1909103ebacfd3
https://doi.org/10.1001/jamadermatol.2018.5368