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1
المؤلفون: Priya S. Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Paula R. Clemens, John W. Day, Sergey Illarioshkin, Mark E. Roberts, Shahram Attarian, Gerson Carvalho, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 138:107185
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd5a5f4858cc8cbc9651e597cf8db827Test
https://doi.org/10.1016/j.ymgme.2022.107185Test -
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المؤلفون: Priya Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin-Hsiu Chien, John W. Day, Sergey Illarioshkin, Mark Roberts, Shahram Attarian, Gerson Carvalho, Young-Chul Choi, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 135:S66-S67
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ca8754c5e69f0b9ffc64a95181c90faTest
https://doi.org/10.1016/j.ymgme.2021.11.168Test -
3
المؤلفون: John W. Day, Tianyue Zhou, Mazen M. Dimachkie, Joao Lindolfo Borges, Sevim Erdem-Ozdamar, Anna Kostera-Pruszczyk, Shafeeq Ladha, Ozlem Goker-Alpan, Yin-Hsiu Chien, Tahseen Mozaffar, Shahram Attarian, Ans T. van der Ploeg, Priya S. Kishnani, Jordi Díaz-Manera, Kristina An Haack, Young Chul Choi, Olivier Huynh-Ba, Paula R. Clemens, Volker Straub, Mark Roberts, Françoise Bouhour, Hani Kushlaf, Antonio Toscano, Benedikt Schoser, Sergey Illarioshkin
المصدر: Molecular Genetics and Metabolism. 132:S57
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Comet, Genetics, medicine, Late onset, business, Molecular Biology, Biochemistry, Gastroenterology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d2e2f2605b089f40f1f662bd16eaaf5Test
https://doi.org/10.1016/j.ymgme.2020.12.127Test -
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المؤلفون: Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz, Janusz Zimowski, Monika Gos, Anna Kostera-Pruszczyk, Maria Jędrzejowska
المصدر: Neuromuscular Disorders. 22:871
مصطلحات موضوعية: Genetics, Mutation, Point mutation, Spinal muscular atrophy, SMN1, Biology, medicine.disease_cause, SMA, medicine.disease, Molecular biology, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), Multiplex ligation-dependent probe amplification, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8eacedbcdce2858c4742f3c106b7710aTest
https://doi.org/10.1016/j.nmd.2012.06.226Test