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1دورية أكاديمية
المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المصدر: PLoS ONE, Vol 15, Iss 2, p e0229718 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3دورية أكاديمية
المؤلفون: Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, Georg M. Stettner, Markus Blankenburg, Joachim Weis, Benedikt Schoser, Wolfgang Müller-Felber, Nina Lochbuehler, Gabriele Hahn, Sabine Rudnik-Schöneborn
المصدر: Children, Vol 8, Iss 8, p 687 (2021)
مصطلحات موضوعية: neuropathy, children, adolescents, Charcot–Marie–Tooth disease, traumatic neuropathy, inflammatory neuropathy, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Sabine Rudnik-Schöneborn, Margot J. Wyrwoll, Frank Tüttelmann, Bettina Toth, Germar-M. Pinggera, Johannes Zschocke
المصدر: Gynäkologische Endokrinologie. 21:107-116
مصطلحات موضوعية: Reproductive Medicine, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
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5
المؤلفون: Sabine Rudnik-Schöneborn, Klaus Zerres
المصدر: Medizinische Genetik. 34:157-161
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d17ade0cbabb6af42f2746483312642
https://doi.org/10.1515/medgen-2022-2123 -
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المصدر: American Journal of Medical Genetics Part A. 185:3851-3858
مصطلحات موضوعية: Sanger sequencing, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Mutation, business.industry, Gene mutation, medicine.disease, medicine.disease_cause, DNA sequencing, symbols.namesake, Tuberous sclerosis, medicine.anatomical_structure, Genetics, symbols, Medicine, Digital polymerase chain reaction, TSC1, TSC2, business, Genetics (clinical)
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المصدر: Medizinische Genetik. 33:3-12
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::885863d01175adfd8593b3d6d6363584
https://doi.org/10.1515/medgen-2021-2051 -
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المؤلفون: Gunda Schwaninger, Simone Heidemann, Wera Hofmann, Tamara Maurer, Katharina Mayerhanser, Joelle Ronez, Herdit Schüler, Katharina Steinmüller, Sabine Rudnik-Schöneborn, Johannes Zschocke
المصدر: Medizinische Genetik. 33:35-44
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e2012d57f62a422f00ecaa76f52fb20e
https://doi.org/10.1515/medgen-2021-2055 -
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المؤلفون: Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, Stephen W. Scherer, Sabine Rudnik-Schöneborn, Anne S. Bassett, Davor Lessel
المساهمون: Medical Genetics
المصدر: Eur J Hum Genet
Eur. J. Hum. Genet. 30, 611-618 (2022)مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Intellectual Disability, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Dwarfism, RNA, Messenger, Genetics (clinical), Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779227639ec88ece7d8b4f405c50e200
https://biblio.vub.ac.be/vubir/biallelic-pan2-variants-in-individuals-with-a-syndromic-neurodevelopmental-disorder-and-multiple-congenital-anomalies(c1e18a3e-84a7-4619-b9fb-370e389acbbf).html -
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المؤلفون: Miriam Elbracht, Sabine Rudnik-Schöneborn
المصدر: Medizinische Genetik. 32:221-225
مصطلحات موضوعية: Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Genetics, medicine, medicine.disease, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2ce512c7db10917c0aaa1e9c8c57f7b
https://doi.org/10.1515/medgen-2020-2031