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المؤلفون: Tanya Stojkovic, Marion Masingue, Helène Turmel, Marianne Hezode-Arzel, Anthony Béhin, Sarah Leonard-Louis, Guillaume Bassez, Stéphanie Bauché, Patricia Blondy, Pascale Richard, Damien Sternberg, Bruno Eymard, Emmanuel Fournier, Rocío Nur Villar-Quiles
المصدر: Neuromuscular Disorders. 32:870-878
مصطلحات موضوعية: Myasthenic Syndromes, Congenital, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Neuromuscular Junction, Humans, Receptors, Cholinergic, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25fb14df20b057ed73705f5621e3df1Test
https://doi.org/10.1016/j.nmd.2022.10.001Test -
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المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
المساهمون: Jackson, A., Lin, S. -J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Matalonga, L., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Ben Yaou, R., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Hanna, M., Houlden, H., Reilly, M., Vandrovcova, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., Van de Vondel, L., Beijer, D., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Balicza, P., Molnar, M. J., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., Macaya, A., Marce-Grau, A., Osorio, A. N., Natera de Benito, D., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Rodriguez Cruz, P. M., Hackman, P., Johari, M., Savarese, M., Udd, B., Horvath, R., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., Rump, A., Varshney, G. K.
المصدر: Genomics England Research Consortium, Jackson, A, Lin, S-J, Jones, E A, Chandler, K E, Orr, D, Moss, C, Haider, Z, Ryan, G, Harrison, M, Burrows, N, Jones, W D, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Varshney, G K & Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186, pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
HGG Adv
HGG Advances, 4, 2مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Hypodontia, Closca, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Ectodermal dysplasia, TSPEAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Conical teeth, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Enamel knot, Autosomal recessive ectodermal dysplasia type 14, WNT10A, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Extracellular matrix dependant signalling, Molecular Medicine, zebrafish fin regeneration, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a406c5a168d5b00147c9f04b9014ef2Test
https://doi.org/10.1016/j.xhgg.2023.100186Test -
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المؤلفون: Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta
المصدر: JOURNAL OF MEDICAL GENETICS
مصطلحات موضوعية: musculoskeletal diseases, Artrogriposi múltiple congènita, Settore BIO/18 - GENETICA, human genetics, neuromuscular diseases, Genomics, Biology, CONTRACTURES, CLASSIFICATION, diseases, symbols.namesake, Diagnòstic, Gene mapping, arthrogryposis multiplex congenita, Exome Sequencing, OF-FUNCTION MUTATIONS, Genetics, Medicine and Health Sciences, genomics, Humans, Genetics (clinical), Exome sequencing, Arthrogryposis, Sanger sequencing, Arthrogryposis multiplex congenita, Genetic heterogeneity, SPINAL MUSCULAR-ATROPHY, Proteins, nervous system malformations, DYSTROPHY, Disease gene identification, GENE, Human genetics, Pedigree, ETIOLOGY, Phenotype, symbols, neuromuscular, Genètica, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7Test
https://hdl.handle.net/1854/LU-8759575Test -
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المؤلفون: Nawal Berber, Sarah Leonard-Louis, Karim Wahbi, Anne Lombès, Pascal Laforêt, Constantinos Papadopoulos, Claude Jardel, Denis Duboc, Tanya Stojkovic, Anthony Behin, Wulfran Bougouin, Bruno Eymard
المصدر: Journal of Inherited Metabolic Disease. 43:459-466
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, Disease, DNA, Mitochondrial, 03 medical and health sciences, Cause of Death, Internal medicine, Diabetes mellitus, Genetics, Humans, Medicine, Genetics (clinical), Retrospective Studies, 030304 developmental biology, Cause of death, 0303 health sciences, business.industry, Incidence, Incidence (epidemiology), 030305 genetics & heredity, Hazard ratio, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Confidence interval, Mutation, Female, France, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19185dc16c6a2e1d72888e15719e5e7Test
https://doi.org/10.1002/jimd.12185Test -
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المؤلفون: Laurent Servais, A. Jacquette, Nathalie Angeard, Marcela Gargiulo, Bruno Eymard, David Cohen, Delphine Héron, E. Huerta, Jean Xavier
مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, Comorbidity, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Humans, Myotonic Dystrophy, Age of Onset, Genetics (clinical), business.industry, Neuropsychology, medicine.disease, Executive functions, 030104 developmental biology, Neurology, Autism spectrum disorder, Pediatrics, Perinatology and Child Health, Neurology (clinical), Age of onset, business, Cognition Disorders, Neurocognitive, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9323569dc5aecbaf7c79851b84260370Test
https://doi.org/10.1016/j.nmd.2017.12.006Test -
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المؤلفون: Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace, Erik Niks, Stephanie Robb, Amelia Evoli, Andrea Klein, Pedro Rodriquez Cruz, Bruno Eymard, Heinz Jungbluth, Corrie Erasmus, Adela Della Marina, Fulvio Baggi, Nancy Kuntz, Malene Børresen, Imelda Hughes, Sithara Ramdas, Monique Ryan, Matthew Pitt
المصدر: Neuromuscular Disorders, 30(3), 254-264. PERGAMON-ELSEVIER SCIENCE LTD
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Juvenile, Guidelines, medicine.disease, Myasthenia gravis, Settore MED/26 - NEUROLOGIA, Neurology, Pediatrics, Perinatology and Child Health, Myasthenia Gravis, medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cd90b4d0d59a80d83e00420c431f01Test
https://hdl.handle.net/1887/3182689Test -
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المؤلفون: X. Latypova, Bertrand Fontaine, Fanny Laffargue, Céline Buon, S. Bauche, Julien Fauré, Alain Sureau, Arnaud Isapof, John Rendu, A. Bernabe Gelot, Damien Sternberg, Denis Furling, Bruno Eymard, Julien Messéant, M. Mayer, Marie-Christine Nougues, Myriam Boëx, Laure Strochlic
المصدر: Neuromuscular Disorders. 30:S56-S57
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94f59842a30dff4c52c4f11cfe571b49Test
https://doi.org/10.1016/j.nmd.2020.08.039Test -
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المؤلفون: Teresinha Evangelista, Conrad C. Weihl, Virginia Kimonis, Hanns Lochmüller, Christoph Clemen, Ray Deshaies, Bruno Eymard, Linda Greensmith, David Hilton-Jones, Rudy Kley, Hemmo Meyer, Tahseen Mozaffar, Satoru Noguchi, Stuart Ralston, Basil Ridha, Bjarne Udd, Conrad Weihl, Matthias Brumhard, Sarah Brumhard
المصدر: Neuromuscular Disorders. 26:535-547
مصطلحات موضوعية: 0301 basic medicine, Gerontology, MEDLINE, Article, Myositis, Inclusion Body, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Genetics (clinical), Myositis, Netherlands, Clinical Trials as Topic, business.industry, Osteitis Deformans, Myositis inclusion body, medicine.disease, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Neurology, Frontotemporal Dementia, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053667d7c6aad94d822e912233b2b86bTest
https://doi.org/10.1016/j.nmd.2016.05.017Test -
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المؤلفون: A. de Becdelievre, Valérie Jobic, Anthony Behin, Valérie Allamand, Ana Ferreiro, Bruno Eymard, C. Gartioux, T. Stojkovic, P. Laforêt, Corinne Metay, C. Ledeuil, P. Richard, Susana Quijano-Roy
المصدر: Neuromuscular Disorders. 29:S192-S193
مصطلحات موضوعية: Extracellular matrix, Neurology, Chemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical), Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c1ab0b4db885103fb71fc4967b63e3aTest
https://doi.org/10.1016/j.nmd.2019.06.543Test -
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المؤلفون: C. Nguyen, A. Thieme, M. Chouchane, J. Leslie, Ulrike Schara, Angela Vincent, K. Roefke, S. Byun, H. Koelbel, Stéphanie Paquay, M. O'Rahelly, Dae-Seong Kim, Bruno Eymard, P. Van den Bergh, M. Fernandez-Garcia, N. Allen, Heinz Jungbluth, A. Hahn, C. Schneider-Gold, M. Henrich
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neurology, Chemistry, Range (biology), Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Medizin, Neurology (clinical), Genetics (clinical), Acetylcholine receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1297d633da2f14d962e5f793a1834eTest