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المؤلفون: Féline E V Scheijmans, Inge Cuppen, Ruben P A van Eijk, Camiel A Wijngaarde, Marja A G C Schoenmakers, Danny R van der Woude, Bart Bartels, Esther S Veldhoen, Irene L B Oude Lansink, Ewout J N Groen, Fay-Lynn Asselman, Renske I Wadman, W Ludo van der Pol
المصدر: Brain communications. 4(6)
مصطلحات موضوعية: General Engineering
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13162801d83612f327d460ca268035cdTest
https://pubmed.ncbi.nlm.nih.gov/36382221Test -
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المؤلفون: Jelena Medic, Camiel A. Wijngaarde, Henny H. Lemmink, Marc D. Jansen, Raymon Vijzelaar, Peter Sodaar, Leonard H. van den Berg, W. Ludo van der Pol, Renske I. Wadman, Chantall A.D. Curial, Marloes Stam, Ewout J N Groen, Jan S. A. G. Schouten
المصدر: Brain Communications
Brain Communications, 2(2):fcaa075. Oxford University Pressمصطلحات موضوعية: 0301 basic medicine, Population, Locus (genetics), SMN1, Biology, PHENOTYPE, Gene dosage, CODON, Structural variation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, III SMA, Copy-number variation, SMA, education, spinal muscular atrophy, Sanger sequencing, Genetics, education.field_of_study, IDENTIFICATION, AcademicSubjects/SCI01870, General Engineering, Spinal muscular atrophy, SURVIVAL MOTOR-NEURON, NATURAL-HISTORY, medicine.disease, GENE, nervous system diseases, DELETIONS, 030104 developmental biology, COPY NUMBER, DISEASE SEVERITY, symbols, Original Article, AcademicSubjects/MED00310, 030217 neurology & neurosurgery, SMN2
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e001154906794f91c5b91d3a32cb061bTest
https://doi.org/10.1093/braincomms/fcaa075Test