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41
المؤلفون: Anna Kostera-Pruszczyk, M. Milewski, Irena Hausmanowa-Petrusewicz, M. Jurek, Maria Jędrzejowska, Janusz Zimowski, D. Sielska
المصدر: Neuromuscular Disorders. 17:778-779
مصطلحات موضوعية: Physics, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Anatomy, SMA, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61166cc61f4a3bae7a7202b2859d0d56Test
https://doi.org/10.1016/j.nmd.2007.06.064Test -
42
المؤلفون: Lenka Pavlovská, Janbernd Kirschner, J. Rahbek, Veronika Karcagi, Petr Vondráček, Marta Garami, Agnes Herczegfalvi, A. Stringer, K. Gramsch, J. Vry, A. Wasylyszyn, Hanns Lochmüller, Lenka Mrázová, I. Tournev, A. Mahoney, Sunil Rodger, Anna Kostera-Pruszczyk, Birgit F. Steffensen, Petr Brabec, N. Catlin, K. Bushby, Anna Lusakowska, Velina Guergueltcheva, V. Antonova, Anna Kamińska
المصدر: Neuromuscular Disorders. 22:880
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Duchenne muscular dystrophy, Research opportunities, medicine.disease, Clinical trial, Patient population, Overall response rate, Neurology, Quality of life, Care Standards, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Genetic diagnosis, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02281a18605e102257b0b804f163040aTest
https://doi.org/10.1016/j.nmd.2012.06.255Test -
43
المؤلفون: Velina Guergueltcheva, V. Antonova, K. Gramsch, Hanns Lochmüller, K. Bushby, Sunil Rodger, A. Højberg, S. Stringer, Veronika Karcagi, P. Brabek, Janbernd Kirschner, Agnes Herczegfalvi, Lenka Mrázová, Anna Kostera-Pruszczyk, J. Rahbek, A. Mahoney, Anna Lusakowska, N. Catlin, Birgit F. Steffensen, J. Vry, A. Wasylyszyn, P. Vondráèek
المصدر: Neuromuscular Disorders. 22:897
مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, Scope (project management), business.industry, Duchenne muscular dystrophy, Comparability, Population, Frequency of use, Health related, medicine.disease, Neurology, International Classification of Functioning, Disability and Health, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Cross-cultural, Neurology (clinical), education, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dae4cba2f227635e66bec334066117aaTest
https://doi.org/10.1016/j.nmd.2012.06.310Test -
44
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 -
45
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 -
46
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 -
47
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 -
48
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 -
49
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 -
50
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