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1دورية أكاديمية
المؤلفون: Nika Maani, Karen Panabaker, Jeanna M. McCuaig, Kathleen Buckley, Kara Semotiuk, Kirsten M. Farncombe, Peter Ainsworth, Seema Panchal, Bekim Sadikovic, Susan Randall Armel, Hanxin Lin, Raymond H. Kim
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-7 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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2دورية أكاديمية
المؤلفون: Isha Berry, Meghan O’Neill, Shelby L. Sturrock, James E. Wright, Kamal Acharya, Gabrielle Brankston, Vinyas Harish, Kathy Kornas, Nika Maani, Thivya Naganathan, Lindsay Obress, Tanya Rossi, Alison E. Simmons, Matthew Van Camp, Xiao Xie, Ashleigh R. Tuite, Amy L. Greer, David N. Fisman, Jean-Paul R. Soucy
المصدر: Scientific Data, Vol 8, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2052-4463Test
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3دورية أكاديمية
المؤلفون: Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
المصدر: Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
مصطلحات موضوعية: mice, myotubularin, myotubular myopathy, muscle disease, natural history, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/15/7/dmm049342Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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4دورية أكاديمية
المؤلفون: Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
المؤلفون: Nika Maani, Shelley Westergard, Joanna Yang, Anabel M. Scaranelo, Stephanie Telesca, Emily Thain, Nathan F. Schachter, Jeanna M. McCuaig, Raymond H. Kim
المصدر: Cancers, Vol 11, Iss 5, p 707 (2019)
مصطلحات موضوعية: breast cancer, neurofibromatosis type I, high-risk screening, screening uptake, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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6
المؤلفون: Vinyas Harish, Shelby L. Sturrock, Amy L. Greer, Alison E. Simmons, Kathy Kornas, Thivya Naganathan, Isha Berry, Xiao Xie, Nika Maani, Jean-Paul R. Soucy, Gabrielle Brankston, Ashleigh R. Tuite, Lindsay Obress, Tanya M Rossi, Matthew Van Camp, David N. Fisman, Meghan O’Neill, James E. Wright, Kamal Acharya
المصدر: Scientific Data, Vol 8, Iss 1, Pp 1-10 (2021)
Scientific Dataمصطلحات موضوعية: 0301 basic medicine, Statistics and Probability, medicine.medical_specialty, Canada, Data Descriptor, Resource (biology), Databases, Factual, Science, Dashboard (business), MEDLINE, Library and Information Sciences, Education, 03 medical and health sciences, 0302 clinical medicine, Pandemic, Epidemiology, medicine, Humans, 030212 general & internal medicine, Pandemics, Geography, business.industry, Public health, Data Collection, Vaccination, COVID-19, Public relations, Computer Science Applications, Open data, 030104 developmental biology, Scale (social sciences), Infectious diseases, Statistics, Probability and Uncertainty, business, Information Systems
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b35e448fa82518794bb7da2a51a5f00Test
https://doaj.org/article/28c0656b46b641a0bbe113e246fcec0dTest -
7
المؤلفون: Jonathan R. Volpatti, Mehdi M. Ghahramani-Seno, Mélanie Mansat, Nesrin Sabha, Ege Sarikaya, Sarah J. Goodman, Eric Chater-Diehl, Alper Celik, Emanuela Pannia, Carine Froment, Lucie Combes-Soia, Nika Maani, Kyoko E. Yuki, Gaëtan Chicanne, Liis Uusküla-Reimand, Simon Monis, Sana Akhtar Alvi, Casie A. Genetti, Bernard Payrastre, Alan H. Beggs, Carsten G. Bonnemann, Francesco Muntoni, Michael D. Wilson, Rosanna Weksberg, Julien Viaud, James J. Dowling
المصدر: Acta neuropathologica. 144(3)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Disease Models, Animal, Mice, Valproic Acid, Animals, Neurology (clinical), Muscle, Skeletal, Protein Tyrosine Phosphatases, Non-Receptor, Zebrafish, Pathology and Forensic Medicine, Epigenesis, Genetic, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7fc13e1b643788c727c080fe1596b89Test
https://pubmed.ncbi.nlm.nih.gov/35844027Test -
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المؤلفون: Jonathan R. Volpatti, James J. Dowling, Hernan Gonorazky, Alper Celik, P.C.G. Onofre-Oliveira, Nika Maani, Ege Sarikaya, Nesrin Sabha
مصطلحات موضوعية: Myotubularin, Muscle weakness, Skeletal muscle, Disease, Biology, medicine.disease, X-linked myotubular myopathy, medicine.anatomical_structure, Knockout mouse, medicine, medicine.symptom, Neuroscience, Natural history study, Gene knockout
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::826c4e64e7315864f888fdec189c5899Test
https://doi.org/10.1101/2021.10.11.463940Test -
9
المؤلفون: Karen Panabaker, Nika Maani, Jeanna McCuaig, Peter Ainsworth, Hanxin Lin, Kathleen Buckley, Kara Semotiuk, Seema Panchal, Bekim Sadikovic, Raymond H. Kim, Susan Armel, Kirsten M. Farncombe
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-7 (2021)
Paediatrics Publications
NPJ Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Genetic testing, QH426-470, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Allele, Family history, Cancer genetics, Molecular Biology, CHEK2, Genetics (clinical), medicine.diagnostic_test, business.industry, Medical record, Complete blood count, Cancer, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Etiology, Medicine, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6dcdecc8ee7aba550e59dd9839b33cTest
https://doi.org/10.1038/s41525-021-00224-6Test -
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المؤلفون: Sophie Karolczak, Nika Maani, James J. Dowling
المصدر: Current opinion in neurology. 34(5)
مصطلحات موضوعية: Gene knockdown, Genetic Medicine, Muscle Weakness, business.industry, MEDLINE, Muscle weakness, Genetic Therapy, Oligonucleotides, Antisense, medicine.disease, Bioinformatics, Precision medicine, Approved drug, Congenital myopathy, Clinical trial, Neurology, medicine, Humans, Neurology (clinical), medicine.symptom, business, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c0488f37dda83e6b312282e4922ecaTest
https://pubmed.ncbi.nlm.nih.gov/34267051Test