المؤلفون: Simon R. Turner, Neil G. Taylor, Steven Laurie

المصدر: The Plant Cell. 12:2529

مصطلحات موضوعية: DNA, Complementary, Protein subunit, Molecular Sequence Data, Mutant, Arabidopsis, Plant Science, Cell wall, chemistry.chemical_compound, Catalytic Domain, Cellulose synthase complex, Amino Acid Sequence, Cloning, Molecular, Cellulose, DNA Primers, Base Sequence, Sequence Homology, Amino Acid, ATP synthase, biology, Arabidopsis Proteins, Cell Biology, biology.organism_classification, Molecular biology, Phenotype, chemistry, Biochemistry, Glucosyltransferases, biology.protein, Secondary cell wall, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6feee7a176f6d89150d7ea9381d5fffcTest
https://doi.org/10.2307/3871246Test

المؤلفون: Alexander, Robert Steven Laurie

مصطلحات موضوعية: Annexe MSc Digitisation Project 2022 Block 25

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______463::804b49f49a20459e355fa8d67e893f5dTest
https://hdl.handle.net/1842/39012Test

المؤلفون: Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Cohen, Enzo, Nelson, Isabelle, Sickmann, Albert, Schara–schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick, F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

المساهمون: Newcastle Upon Tyne Hospitals NHS Foundation Trust, Barcelona Institute of Science and Technology (BIST), University of Cambridge UK (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Leibniz-Institut für Analytische Wissenschaften (ISAS), University of Aberdeen, Ruhr University Bochum = Ruhr-Universität Bochum (RUB), University Children's Hospital of Essen, University Hospital Essen (AöR), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D S Pitceathly, Kiran Polavarapu, Pedro M Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

العلاقة: hal-03352467; https://hal.sorbonne-universite.fr/hal-03352467Test; https://hal.sorbonne-universite.fr/hal-03352467/documentTest; https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-021-00851-8Test
https://hal.sorbonne-universite.fr/hal-03352467Test
https://hal.sorbonne-universite.fr/hal-03352467/documentTest
https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Nelson, Isabelle, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

المساهمون: Radboud University Medical Center [Nijmegen], Institute of Environmental Science and Technology [Barcelona] (ICTA), Universitat Autònoma de Barcelona (UAB), University of Cambridge [UK] (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek, Admin, Oskar, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 2021, 29 (9), pp.1470-1471. ⟨10.1038/s41431-021-00937-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1470-1471. ⟨10.1038/s41431-021-00937-3⟩

مصطلحات موضوعية: [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a2610e7c57e6cd92ff7daa4c334b93eTest
http://hdl.handle.net/20.500.12278/112877Test

المؤلفون: Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Van Der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-De Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van De Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina

المساهمون: Schon, Katherine [0000-0001-8054-8954], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Barcelona Institute of Science and Technology (BIST), University of Cambridge [UK] (CAM), Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., University of Aberdeen, Ruhr-Universität Bochum [Bochum], University Children's Hospital of Essen [Essen, Germany], Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D S Pitceathly, Kiran Polavarapu, Pedro M Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva, Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andrea, Chinnery, Patrick F, Kölbel, Heike, Roos, Andrea, Horvath, Rita, Nigro, Vincenzo, Torella, Annalaura, Piluso, Giulio

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353

مصطلحات موضوعية: 0301 basic medicine, Male, Proteome, 45/41, Developmental Disabilities, Medizin, 45/22, Biology, Bioinformatics, Nervous System Malformations, Brief Communication, 82/80, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, 38/23, Genetics research, Genetics, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Exome, Genetic Testing, Gene, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Proteomic Profile, Proteomic Profiling, 82/58, 631/208/514/2254, brief-communication, 692/308/2056, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Spinal muscular atrophy, medicine.disease, 3. Good health, 030104 developmental biology, Congenital muscular dystrophy, Next-generation sequencing, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/zip; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70b9b728b764b8a3df50fb09ddb3b13Test
https://pubmed.ncbi.nlm.nih.gov/34075209Test