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1دورية أكاديمية
المؤلفون: Steven Ghanny, Aliza Zidell, Helio Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan M. Wit, Javier Aisenberg
المصدر: JCRPE, Vol 13, Iss 4, Pp 461-467 (2021)
مصطلحات موضوعية: igsf1 deficiency, hypothyroidism, macroorchidism, obesity, prolactin, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas A. Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G. Bönnemann, Eric A. Shoubridge, Thorsten Hornemann
المصدر: The Journal of Clinical Investigation, Vol 132, Iss 18 (2022)
مصطلحات موضوعية: Neuroscience, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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المؤلفون: Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas Alex Morales Saute, Shalett Mathew, Payam Mohassel, Carsten Bonnemann, Eric A. Shoubridge, Thorsten Hornemann
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::343cbf999fb7c55c0b1eb07a6388b4fa
https://doi.org/10.1101/2022.04.29.490031 -
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المؤلفون: Florian P. Thomas, Carsten G. Bönnemann, Zoe Piccus, Aliza Zidell, Ana Lucila Moreira, Matthew Nalls, S. Neuhaus, Mark A. Tarnopolsky, Helio Pedro, Fernando Kok, Eric Mittelmann, Kenneth Gable, Lauren Brady, Chamindra G. Konersman, Teresa M. Dunn, Anne M. Connolly, Alessandro Introna, Katherine R. Chao, Robert H. Brown, Tracy Brandt, Sabine Specht, Thorsten Hornemann, Museer A. Lone, Alec R. Nickolls, Volker Straub, Andreas Roos, Ahmet Hoke, Giancarlo Logroscino, Chiara Fiorillo, Claire E. Le Pichon, Chia-Hsueh Lee, Cindy V. Ly, A. Reghan Foley, Dimah Saade, Megan T. Cho, Sita D. Gupta, Ying Hu, Payam Mohassel, Andrea Gangfuß, Heike Kölbel, Christopher Grunseich, Jonas Alex Morales Saute, Sandra Donkervoort, Ana Töpf, Ulrike Schara, Naemeh Pourshafie
المصدر: Nat Med
Nature Medicine
Web of Scienceمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Alleles, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, CRISPR-Cas Systems, Child, Female, Genes, Dominant, HEK293 Cells, Humans, Middle Aged, Mutation, Serine C-Palmitoyltransferase, Sphingolipids, Young Adult, Medizin, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Serine, Cellular and Molecular Neuroscience, 03 medical and health sciences, Text mining, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Dominant, SPTLC1, Allele, Amyotrophic lateral sclerosis, Genetics, business.industry, Mechanism (biology), Serine C-palmitoyltransferase, General Medicine, Motor neuron, medicine.disease, Sphingolipid, 030104 developmental biology, medicine.anatomical_structure, Genes, 030220 oncology & carcinogenesis, Neurology (clinical), business, Neuroscience
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المؤلفون: Rachel Nusbaum, Scott P. Kelly, Gillian W. Hooker, Claudine Isaacs, Aliza Zidell, Jessica Heinzmann, Lina Jandorf, Heiddis B. Valdimarsdottir, Shawna C. Willey, Suzanne C O'Neill, Katia E. Khoury, Marc D. Schwartz, Beth N. Peshkin
مصطلحات موضوعية: 0301 basic medicine, Adult, Cancer Research, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Genetic counseling, Decision Making, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Genetic Counseling, 030105 genetics & heredity, Gene mutation, Article, law.invention, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Breast cancer, Randomized controlled trial, law, Internal medicine, medicine, Biomarkers, Tumor, Humans, Genetic Testing, Young adult, Mastectomy, Genetic testing, Aged, Neoplasm Staging, medicine.diagnostic_test, business.industry, Standard of Care, Middle Aged, medicine.disease, Radiation therapy, Oncology, 030220 oncology & carcinogenesis, Mutation, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0dc8cb36fb7a28b69c4781641ad0267
https://europepmc.org/articles/PMC6026034/
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