المؤلفون: Daniel Backenroth, Gheona Altarescu, Fouad Zahdeh, Tzvia Mann, Omer Murik, Paul Renbaum, Reeval Segel, Sharon Zeligson, Elinor Hakam-Spector, Shai Carmi, David A. Zeevi

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/69a704d99591414cb15f84c5e26fb2de

المؤلفون: Albina Nowak, Omer Murik, Tzvia Mann, David A. Zeevi, Gheona Altarescu

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/d6d1074245474c7a9812c07b568074f0

المؤلفون: Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)

مصطلحات موضوعية: at‐risk populations screening, cascade genotyping, early diagnosis, Fabry disease, family genetic testing, pedigree drawing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/7133386bff6342479156e20d5b14da8e

المؤلفون: Yaara Cohen-Hadad, Gheona Altarescu, Talia Eldar-Geva, Ephrat Levi-Lahad, Ming Zhang, Ekaterina Rogaeva, Marc Gotkine, Osnat Bartok, Reut Ashwal-Fluss, Sebastian Kadener, Silvina Epsztejn-Litman, Rachel Eiges

المصدر: Stem Cell Reports, Vol 7, Iss 5, Pp 927-940 (2016)

مصطلحات موضوعية: C9/ALS, unstable repeat expansions, DNA methylation, CpG islands, pluripotent stem cells, disease modelling, neurodegeneration, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221367111630217X; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/9f14e07fd920475989781574b056d061

المؤلفون: Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Omer Murik, David A. Zeevi, Gheona Altarescu, Paweł Stankiewicz

المصدر: American Journal of Medical Genetics Part A. 188:1420-1425

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61e2d24c90dd824a3aa87d99cda544b5
https://doi.org/10.1002/ajmg.a.62656

المؤلفون: Pauline Megalli, Talia Eldar-Geva, Rachel Eiges, Silvina Epsztejn-Litman, Gheona Altarescu, Oshrat Schonberger, Shira Yanovsky-Dagan, Eliora Cohen

المساهمون: The Hebrew University Hadassah Medical School, Shaare Zedek Medical Center [Jerusalem, Israel], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université, Centre de Recherche en Myologie, Association Institut de Myologie [Paris]

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, In press, ⟨10.1038/s41431-021-00999-3⟩
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-021-00999-3⟩

مصطلحات موضوعية: musculoskeletal diseases, Male, Untranslated region, Somatic cell, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Myotonic dystrophy, Myotonin-Protein Kinase, Germline, Andrology, 03 medical and health sciences, 0302 clinical medicine, Semen, Genetics, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, DNA Methylation, medicine.disease, Spermatozoa, Sperm, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA methylation, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb160efea570c578bcea79982c7d05d
https://doi.org/10.1038/s41431-021-00999-3

المؤلفون: Elinor Hakam-Spector, Tzvia Mann, Gheona Altarescu, Shai Carmi, Paul Renbaum, Fouad Zahdeh, Adi Ben-Yehuda, Reeval Segel, David A. Zeevi, Ido Ben-Ami, Daniel Backenroth, Talia Eldar-Geva, Sharon Zeligson

المصدر: Genetics in Medicine. 23:1334-1340

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.diagnostic_test, Haplotype, Chromosome, 030105 genetics & heredity, Biology, law.invention, 03 medical and health sciences, 030104 developmental biology, Polymorphism (computer science), law, medicine, SNP, Genotyping, Genetics (clinical), X chromosome, Polymerase chain reaction, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f16a2f5627410208f0a9dff5b54fd38
https://doi.org/10.1038/s41436-021-01145-6

المؤلفون: Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y. Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eiges

المصدر: Stem Cell Reports, Vol 5, Iss 2, Pp 221-231 (2015)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671115001848; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/cd5a02d6a12048d9aca4c072ca981984

المؤلفون: Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges

المصدر: Stem Cell Reports, Vol 3, Iss 5, Pp 699-706 (2014)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671114002860; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/84318ba0cb7e4d1589dd771a8dc09b08

المؤلفون: Gheona Altarescu, Shira Shaviv, Talia Eldar-Geva, Sharon Zeligson, Naama Srebnik Moshe, Orit Freireich, Omri Weiss, Keren Rotshenker-Olshinka, Reeval Segel

المصدر: J Assist Reprod Genet

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Copy Number Variations, Pregnancy Rate, Genetic counseling, Reproductive medicine, Chromosome Disorders, Fertilization in Vitro, Young Adult, Pregnancy, Internal medicine, Genetics, medicine, Humans, Clinical significance, Genetic Testing, Copy-number variation, Preimplantation Diagnosis, Genetics (clinical), Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Pregnancy Outcome, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, Embryo Transfer, Human genetics, Reproductive Medicine, Female, Live birth, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa56155af53033d20bf2562f6ba8c547
https://doi.org/10.1007/s10815-020-02055-3