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1
المؤلفون: Andreas Ziegler, Nathalie Goemans, Janbernd Kirschner, Eduardo F. Tizzano, Laurent Servais, Eugenio Mercuri, Thomas Sejersen, Francesco Muntoni, N. Butoianu, Anna Kostera-Pruszczyk, Jana Haberlová, W. Ludo van der Pol, Susana Quijano-Roy
المصدر: European Journal of Paediatric Neurology
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Statement (logic), Recombinant Fusion Proteins, Zolgensma, Context (language use), Disease, SMN1, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Gene therapy, 0302 clinical medicine, Nusinersen, 030225 pediatrics, Onasemnogene abeparvovec, Humans, Medicine, Intensive care medicine, Biological Products, business.industry, Patient Selection, Gene replacement therapy, Infant, Genetic Therapy, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, SMN2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fa53855c7e4c43428df03e9da83368Test
https://doi.org/10.1016/j.ejpn.2020.07.001Test -
2
المؤلفون: Andrzej Kochański, M. Gaweł, Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Anna Kostera-Pruszczyk, E. Szmidt-Sałkowska
المصدر: European Journal of Paediatric Neurology. 12:S51-S52
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43ba94159f2bf0e727e85a700826d6a4Test
https://doi.org/10.1016/s1090-3798Test(08)70171-5 -
3
المؤلفون: Barbara Ryniewicz, Anna Kostera-Pruszczyk, H. Kwieciński
المصدر: European Journal of Paediatric Neurology. 12:S23
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Biology, Gene, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9957cbde98730b024ce29d1f321ea22Test
https://doi.org/10.1016/s1090-3798Test(08)70075-8 -
4
المصدر: European Journal of Paediatric Neurology. 12:S53
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, SMA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f27bd63f398ee7b75318f6c0ac134953Test
https://doi.org/10.1016/s1090-3798Test(08)70177-6 -
5
المؤلفون: Anna Kamińska, A. Łusakowska, S. Maxwell, Anna Kostera-Pruszczyk, D. Beeson, Anna Macias
المصدر: European Journal of Paediatric Neurology. 12:S54
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Immunology, medicine, Late onset, Neurology (clinical), General Medicine, Congenital myasthenic syndrome, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e691798aff0fde424a30596ad14dbaffTest
https://doi.org/10.1016/s1090-3798Test(08)70181-8 -
6
المصدر: European Journal of Paediatric Neurology. 12:S49
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Juvenile onset, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), General Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb0140de6993e06f8ee31e0fd31957acTest
https://doi.org/10.1016/s1090-3798Test(08)70163-6 -
7
المؤلفون: I. Domitrz, Marta Lipowska, M. Olszewicz-Dukaczewska, Anna Kostera-Pruszczyk, Katarzyna Rowińska-Marcińska, M. Gola, Barbara Ryniewicz
المصدر: European Journal of Paediatric Neurology. 12:S52
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Carpal tunnel syndrome, medicine.disease, Surgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a12891a4e466074474ac5680d50a37eTest
https://doi.org/10.1016/s1090-3798Test(08)70173-9 -
8
المؤلفون: P. Charron, Piotr Pruszczyk, Pascal Laforêt, A. Nadaj-Pakleza, P. Richard, Anna Kamińska, Anna Kostera-Pruszczyk
المصدر: European Journal of Paediatric Neurology. 11:112
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, medicine, Danon disease, Neurology (clinical), General Medicine, Biology, Gene mutation, medicine.disease, Penetrance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::00e4dd0e488510cd6dd305a3f0425e24Test
https://doi.org/10.1016/s1090-3798Test(08)70682-2