المؤلفون: Dov Tiosano, Laura Audi, Sharlee Climer, Weixiong Zhang, Alan R. Templeton, Monica Fernández-Cancio, Ruth Gershoni-Baruch, José Miguel Sánchez-Muro, Mohamed El Kholy, Zèev Hochberg

المصدر: G3: Genes, Genomes, Genetics, Vol 6, Iss 5, Pp 1251-1266 (2016)

مصطلحات موضوعية: epistasis, skin color, vitamin D, linkage disequilibrium, network analysis, adaptation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2160-1836

URL الوصول: https://doaj.org/article/0513303ddfe64b3eaa2e0886dfc7b3aa

المؤلفون: Judith Aharon-Peretz, Samih Badarny, Raphiq Ibrahim, Ruth Gershoni-Baruch, Gamal Hassoun

المصدر: Tremor and Other Hyperkinetic Movements, Vol 2 (2012)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://tremorjournal.org/index.php/tremor/article/view/81; https://doaj.org/toc/2160-8288

URL الوصول: https://doaj.org/article/59acb86df6d4475694baf1f856f4a4f1

المؤلفون: Ruth Gershoni-Baruch, Yoram Plotsky, Dani Bercovich, Shirley Horn-Saban, Yoav Baruch

المصدر: American Journal of Medical Genetics Part A. 185:1913-1917

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Economic shortage, 030105 genetics & heredity, Audiology, medicine.disease, QRICH1, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, Speech delay, Genetics, medicine, Verbal comprehension, Dysmorphic facial features, medicine.symptom, Psychology, Linear growth, Genetics (clinical), Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe277ddabb33f163efb30ad4f6bbca4c
https://doi.org/10.1002/ajmg.a.62184

المؤلفون: Ruth Gershoni-Baruch, Idit Pasternak, Nehama Zuckerman Levin, Naim Shehadeh, Dani Bercovich

المصدر: Diabetes. 69

مصطلحات موضوعية: Genetics, Mutation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Type 2 diabetes, Biology, medicine.disease, medicine.disease_cause, Insulin resistance, Diabetes mellitus, Internal Medicine, medicine, Glucose homeostasis, Metabolic syndrome, Dyslipidemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::40f11a2cc6759e68782020c334b96c9c
https://doi.org/10.2337/db20-1647-p

المؤلفون: Sharlee Climer, Alan R. Templeton, José Miguel Sánchez-Muro, Dov Tiosano, Laura Audi, Mónica Fernández-Cancio, Zeev Hochberg, Mohamed El Kholy, Weixiong Zhang, Ruth Gershoni-Baruch

المصدر: G3: Genes, Genomes, Genetics, Vol 6, Iss 5, Pp 1251-1266 (2016)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
G3: Genes|Genomes|Genetics

مصطلحات موضوعية: 0301 basic medicine, epistasis, Linkage disequilibrium, Genotype, Genetic Linkage, Adaptation, Biological, Skin Pigmentation, vitamin D, adaptation, Biology, Investigations, QH426-470, Calcitriol receptor, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetic linkage, skin color, Genetics, Humans, Gene Regulatory Networks, Skin color, International HapMap Project, Gene–environment interaction, Allele, Vitamin D, Adaptation, Molecular Biology, network analysis, Genetics (clinical), Alleles, Genome, Human, Altitude, Computational Biology, Epistasis, Genetic, Cline (biology), Genomics, 030104 developmental biology, Epistasis, Receptors, Calcitriol, Gene-Environment Interaction, Network analysis, 030217 neurology & neurosurgery, linkage disequilibrium

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2baad067c403c2643cccfed5cdabb38d
http://g3journal.org/lookup/doi/10.1534/g3.115.026773

المؤلفون: Maria Nassar, Ilana Schlesinger, Efrat Dagan, Ruth Gershoni-Baruch, Judith Peretz-Aharon, Mareemar Ayoub, Alina Kurolap

المصدر: Dementia and Geriatric Cognitive Disorders. 42:1-6

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mutation, Parkinson's disease, Post hoc, business.industry, Cognitive Neuroscience, Disease, medicine.disease_cause, medicine.disease, Gastroenterology, LRRK2, Ashkenazi jews, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Statistical significance, medicine, Geriatrics and Gerontology, Niemann–Pick disease, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8620be36392fc9a3aef0f1cf760cbb1c
https://doi.org/10.1159/000447450

المؤلفون: Svetlana Melikhan-Revzin, Adi Mory, Efrat Dagan, Ruth Gershoni-Baruch, Alina Kurolap

المصدر: Lymphatic Research and Biology. 13:107-111

مصطلحات موضوعية: Male, RNA Splicing, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Locus (genetics), Biology, Congenital lymphedema, symbols.namesake, Gene Order, medicine, Humans, Missense mutation, Primary lymphedema, Lymphedema, Genetic Association Studies, Genetics, Sanger sequencing, Infant, Newborn, Infant, Autosomal dominant trait, Vascular Endothelial Growth Factor Receptor-3, Disease gene identification, medicine.disease, humanities, Pedigree, Phenotype, Genetic Loci, symbols, Female, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::084dfdc79e12195c6557fba902b73f8a
https://doi.org/10.1089/lrb.2014.0044

المؤلفون: Moniek Riemersma, Shmuel Pietrokovski, Hans van Bokhoven, Tony Roscioli, Ayelet Eran, Isabella Gazzoli, Dirk Lefeber, Ron A. Wevers, Ruth Gershoni-Baruch, Ellen van Beusekom, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Hanna Mandel, Moran Gershoni

المصدر: Neurology. 84:2177-2182

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Biology, medicine.disease_cause, Frameshift mutation, Consanguinity, symbols.namesake, medicine, Dystroglycan, Humans, Israel, Dystroglycans, Frameshift Mutation, Walker–Warburg syndrome, Exome sequencing, Sanger sequencing, Genetics, Mutation, Infant, Newborn, Infant, Walker-Warburg Syndrome, medicine.disease, Disease gene identification, Molecular biology, Arabs, symbols, biology.protein, Female, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb42f1ab78131deba6dfc34c79c56f44
https://doi.org/10.1212/wnl.0000000000001615

المؤلفون: Eitan Friedman, Peter Ainsworth, Ava Kwong, Jacek Gronwald, Sofia D. Merajver, John Lunn, Andrea Eisen, Talia Donenberg, Wendy S. Meschino, Rochelle Demsky, Taya Fallen, Fergus J. Couch, Joanne L. Blum, Albert E. Chudley, Charis Eng, Raluca N. Kurz, Kelly A. Metcalfe, Mary B. Daly, Aletta Poll, Howard M. Saal, Louise Bordeleau, André Robidoux, A Jakubowska, Steven A. Narod, Tomasz Byrski, Claudine Isaacs, Charmaine Kim-Sing, Jane McLennan, Kenneth Offit, Dominique Stoppa-Lyonnet, Nadine Tung, Robert E. Reilly, Daniel Rayson, Edmond G. Lemire, Marie E. Wood, Jan Klijn, Siranoush Manoukian, Barry P. Rosen, Gad Rennert, Gareth Evans, Susan Armel, Ruth Gershoni-Baruch, Pål Møller, Jan Lubinski, Mark E. Robson, Sonia Nanda, Beth Y. Karlan, Barbara Pasini, Henry T. Lynch, Kevin Sweet, Leigha Senter, Christian F. Singer, Ping Sun, Judy Garber, Lovise Maehle, Josephine Wagner Costalas, Ophira Ginsburg, Dawna Gilchrist, Tomasz Huzarski, Wendy McKinnon, Jeffrey N. Weitzel, William D. Foulkes, Susan L. Neuhausen, Noah D. Kauff, Christine Rappaport, Carey A. Cullinane, David M. Euhus, Tuya Pal, Dana Zakalik, Olufunmilayo I. Olopade, Seema Panchal, Cezary Cybulski, Susan T. Vadaparampil

المصدر: Breast Cancer Research and Treatment. 146:421-427

مصطلحات موضوعية: Adult, Oncology, Heterozygote, Cancer Research, medicine.medical_specialty, Time Factors, Antineoplastic Agents, Hormonal, medicine.medical_treatment, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Article, Contralateral breast cancer, Breast cancer, BRCA2 Mutation, Risk Factors, Internal medicine, Odds Ratio, medicine, Humans, skin and connective tissue diseases, Aged, business.industry, Case-control study, Cancer, Oophorectomy, Neoplasms, Second Primary, Odds ratio, Middle Aged, medicine.disease, Tamoxifen, Case-Control Studies, Mutation, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce7b5df22a2dfdec890e6aaef924df2a
https://doi.org/10.1007/s10549-014-3026-3

المؤلفون: F.X. Ruiz, Adi Mory, Jaume Farrés, Evgenia A. Yakovtseva, Efrat Dagan, Alina Kurolap, Xavier Parés, Ruth Gershoni-Baruch

المصدر: European Journal of Human Genetics. 22:419-422

مصطلحات موضوعية: Male, Molecular Sequence Data, Short Report, Mutation, Missense, Biology, Microphthalmia, symbols.namesake, chemistry.chemical_compound, Genetic linkage, Genetics, medicine, Humans, Microphthalmos, Missense mutation, Amino Acid Sequence, Israel, Gene, Genetics (clinical), Sanger sequencing, Anophthalmia, Methionine, Homozygote, Anophthalmos, medicine.disease, Disease gene identification, Aldehyde Oxidoreductases, Arabs, Pedigree, chemistry, symbols, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3f0ba3be0d532b2740ea0092decc98
https://doi.org/10.1038/ejhg.2013.157