المؤلفون: Everhard Korthals Altes, Willem de Ridder

المصدر: The Rijksmuseum Bulletin, Vol 54, Iss 4 (2024)

مصطلحات موضوعية: History of the arts, NX440-632

وصف الملف: electronic resource

العلاقة: https://bulletin.rijksmuseum.nl/article/view/18827Test; https://doaj.org/toc/1877-8127Test; https://doaj.org/toc/2772-6126Test

الوصول الحر: https://doaj.org/article/1653475dd9554c319394c1c1c4bb46daTest

المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

المؤلفون: Willem De Ridder, Geert de Vries, Kristof Van Schil, Tine Deconinck, Vincent Mouly, Volker Straub, Jonathan Baets

المصدر: Neuromuscular Disorders. 33:432-439

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b539ba509f41050d7e9ce717744cb05eTest
https://doi.org/10.1016/j.nmd.2023.04.003Test

المؤلفون: Jonathan De Winter, Gert Cypers, Edwin Jacobs, Stephanie Vanden Bossche, Tine Deconinck, Willem De Ridder, Sven Dekeyzer, Jonathan Baets

المساهمون: Clinical Genetics

المصدر: Neuromuscular Disorders, 33(2), 148-152. Elsevier Ltd.
Neuromuscular disorders

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Human medicine, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b930ec3307f77e1d65fd1c2c5700a0Test
https://doi.org/10.1016/j.nmd.2022.12.016Test

المؤلفون: Jonathan Baets, Willem De Ridder, Peter De Jonghe, Volker Straub

المصدر: Neuromuscul Disord
Neuromuscular disorders

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Late onset, Myopathies, Nemaline, Monoclonal Gammopathy of Undetermined Significance, Proof of Concept Study, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Exome Sequencing, Prevalence, Humans, Medicine, Muscle, Skeletal, Myopathy, Genetics (clinical), Exome sequencing, Aged, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Middle Aged, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Immunohistochemistry, Female, Human medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3173088040fee8d85d7f324a2a05deeTest
https://doi.org/10.1016/j.nmd.2021.04.010Test

المؤلفون: Willem De Ridder, Baziel Engelen, Nens Alfen

المصدر: American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 188, 1801-1807
American Journal of Medical Genetics. Part A, 188, 6, pp. 1801-1807

مصطلحات موضوعية: Phenotype, Mutation, Noonan Syndrome, Genetics, LEOPARD Syndrome, Humans, Neuralgia, Human medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical), Transcription Factors, Ultrasonography

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56652d09fe7dd469ae5e6075a9e9729eTest
https://pubmed.ncbi.nlm.nih.gov/35258168Test

المؤلفون: Jenny Carmichael, Federico Zara, Konstantinos Ampatzis, Somayeh Bakhtiari, Sherifa A. Hamed, Roman Chrast, Rolf Stucka, Juliane Müller, Gudrun Nürnberg, Nihal Olgaç Dündar, Erik-Jan Kamsteeg, Shoji Tsuji, Maja Di Rocco, Shazia Maqbool, Francisca Millan, Jonathan Baets, Tine Deconinck, Hanan E. Shamseldin, Tim M. Strom, Marcello Scala, Elham Alehabib, Cara M. Skraban, Isabella Ceccherini, Vincenzo Salpietro, Mohammed Anter Abdelhameed, Filippo M. Santorelli, Michele Iacomino, Peter De Jonghe, Yasuhiro Suzuki, Rossella Pasquariello, Anna Uhrova Meszarosova, James T Peterson, Ahmed Alfares, Yoshihisa Takiyama, Rebecca Schüle, Hossein Darvish, Yinghong Wang, Marta Rusmini, Selina Deschner, Adriana P. Rebelo, Fatima Rahman, Tobias B. Haack, Manuela Wiessner, Changlian Zhu, Matthis Synofzik, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Frederic Tran Mau-Them, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Richard A. Lewis, Jin Yun Helen Chen, Meng-Yuan Ni, Michaela Auer-Grumbach, Andrea Català-Bordes, Ivana Ricca, Sheng Chih Jin, Dieter Gläser, Rita Horvath, Maryam Najafi, Jamileh Rezazadeh Varaghchi, Henry Houlden, Bart P.C. van de Warrenburg, Katheryn Grand, Gökhan Uyanik, Jan Senderek, Jean-Jacques Médard, Özgür Duman, Andrea Pedroni, Willem De Ridder, Reza Maroofian, Saghar Ghasemi Firouzabadi, Michael C. Kruer, H. Küpper, Emmanuelle Schmitt, Alistair T. Pagnamenta, Mary J H Willis, Kaya Bilguvar, Majid Alfadhel, Jonathan De Winter, Stephan Züchner, Saeed Al Tala, Hwei-Jen Lee, John M. Graham, Amy Goldstein, Ruben Portier, Stephanie Efthymiou, Yiran Xu, Ludger Schöls, Christian Beetz, Maria Gabriela Otero, Nicholas W. Wood, Najwa Anwar, Martin Kuchar, Fowzan S. Alkuraya, Tyler Mark Pierson, David Dredge, Nourelhoda A Haridy, Laetitia Lambert, Hiroyuki Ishiura, Peter Nürnberg, Luca Bartesaghi, Kishin Koh, Haitian Nan

المصدر: Brain

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Original Articles, business, Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5eTest
https://pubmed.ncbi.nlm.nih.gov/33970200Test

المؤلفون: Jan De Bleecker, Karel Heytens, L. Heytens, Willem De Ridder, Jonathan Baets

المصدر: Anaesthesia and intensive care

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Strenuous exercise, 030229 sport sciences, Critical Care and Intensive Care Medicine, medicine.disease, Rhabdomyolysis, Work-up, 03 medical and health sciences, 0302 clinical medicine, Anesthesiology and Pain Medicine, medicine, Exertional rhabdomyolysis, Humans, Screening tool, Human medicine, Muscle, Skeletal, Intensive care medicine, business, Exercise, Acute rhabdomyolysis, Clinical syndrome, 030217 neurology & neurosurgery, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8072ab60fa352593aa36577543a8ca90Test
https://doi.org/10.1177/0310057x19835830Test

المؤلفون: Juliane S Müller, Adriana P. Rebelo, Fatima Rahman, Isabella Ceccherini, Shoji Tsuji, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Sherifa A. Hamed, Elham Alehabib, Vincenzo Salpietro, Hossein Darvish, Sheng Chih Jin, Katheryn Grand, Gökhan Uyanik, Henry Houlden, Rolf Stucka, Ahmed Alfares, Francisca Millan, Andrea Pedroni, Hanna Küpper, Najwa Anwar, Andrea Catala Bordes, Michele Iacomino, Dieter Gläser, Tine Deconinck, Maja Di Rocco, Federico Zara, Jin Yun Helen Chen, Shazia Maqbool, Martin Kuchar, Kishin Koh, Tim M. Strom, Filippo M. Santorelli, Nicholas W. Wood, Stephanie Efthymiou, Marcello Scala, Selina Deschner, Jenny Carmichael, Cara M. Skraban, Gudrun Nürnberg, Maria Gabriela Otero, Michael C. Kruer, Hanan E. Shamseldin, Bart P.C. van de Warrenburg, Yasuhiro Suzuki, Haitian Nan, Somayeh Bakhtiari, Willem De Ridder, Roman Chrast, Ivana Ricca, Changlian Zhu, Rebecca Schüle, Jonathan Baets, Rossella Pasquariello, Peter De Jonghe, Fowzan S. Alkuraya, Nihal Olgaç Dündar, Majid Alfadhel, Yinghong Wang, Jamileh Rezazadeh Varaghchi, Tyler Mark Pierson, David Dredge, Peter Nürnberg, Marta Rusmini, Nourelhoda A Haridy, Yoshihisa Takiyama, Manuela Wiessner, Maryam Najafi, Saghar Ghasemi Firouzabadi, Matthis Synofzik, Frederic Tran Mau-Them, Christian Beetz, Konstantinos Ampatzis, James T Peterson, Emmanuelle Schmitt, Laetitia Lambert, Erik-Jan Kamsteeg, Kaya Bilguvar, Richard A. Lewis, Jonathan De Winter, Hwei-Jen Lee, Hiroyuki Ishiura, Jean-Jacques Médard, Luca Bartesaghi, Mary J H Willis, Anna Uhrova Meszarosova, Rita Horvath, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Meng-Yuan Ni, Mohammed Anter Abdelhameed, Tobias B. Haack, Jan Senderek, Özgür Duman, Alistair T. Pagnamenta, John M. Graham, Yiran Xu, Amy Goldstein, Ruben Portier, Michaela Auer-Grumbach, Ludger Schöls, Reza Maroofian, Stephan Züchner, Saeed Al Tala

المساهمون: Genomics England Research Consortium, PREPARE Network

المصدر: Brain
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434

مصطلحات موضوعية: 0301 basic medicine, Male, Hereditary spastic paraplegia, Mitochondrial disease, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Mice, 0302 clinical medicine, genetics [Spastic Paraplegia, Hereditary], mitochondrial disorder, medicine, Missense mutation, Animals, Humans, HSP, autosomal recessive, hereditary spastic paraplegia, HPDL, genetics [Oxygenases], Spasticity, ddc:610, Spastic tetraplegia, Zebrafish, Homogentisate 1,2-dioxygenase, Genetics, Errata, business.industry, Spastic Paraplegia, Hereditary, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hallucinogen persisting perception disorder, Pedigree, Rats, 030104 developmental biology, Mutation, Oxygenases, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Spastic quadriplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032194096789f9a56cdf70372f329787Test
https://doi.org/10.1093/brain/awab041Test

المؤلفون: Stephan Züchner, Jonathan Baets, Danique Beijer, Matthis Synofzik, Jonathan De Winter, Willem De Ridder, Philip Van Damme, Werner Spileers

المساهمون: PREPARE Consortium

المصدر: Brain 144(2), e17-e17 (2021). doi:10.1093/brain/awaa389
Brain

مصطلحات موضوعية: 0303 health sciences, CDP ethanolamine, Spastic Paraplegia, Hereditary, PREPARE consortium, Ethanolamines, genetics [Mutation], Biology, Phenotype, Cytidine Diphosphate, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Biochemistry, chemistry, Biosynthesis, Humans, Human medicine, Neurology (clinical), ddc:610, 030217 neurology & neurosurgery, Cytidine diphosphate, 030304 developmental biology

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3331edc261c8c5aaabca4443c50d82fTest
https://pub.dzneTest.de/record/156018