المؤلفون: Carolien G de Kovel, Flip Mulder, Jessica van Setten, Ruben van 't Slot, Abdullah Al-Rubaish, Abdullah M Alshehri, Khalid Al Faraidy, Abdullah Al-Ali, Mohammed Al-Madan, Issa Al Aqaili, Emmanuel Larbi, Rudaynah Al-Ali, Alhusain Alzahrani, Folkert W Asselbergs, Bobby P C Koeleman, Amein Al-Ali

المصدر: PLoS ONE, Vol 11, Iss 2, p e0146502 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4744043?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/f122dbf0511048a8b0ab407fdb727226Test

المؤلفون: Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander

المصدر: PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/7a9aaf42fe42407c9b6b46e8e6a9130aTest

المؤلفون: Rian M Nijmeijer, Hjalmar C van Santvoort, Alexandra Zhernakova, Steffen Teller, Jonas A Scheiber, Carolien G de Kovel, Marc G H Besselink, Jeroen T J Visser, Femke Lutgendorff, Thomas L Bollen, Marja A Boermeester, Ger T Rijkers, Frank U Weiss, Julia Mayerle, Markus M Lerch, Hein G Gooszen, Louis M A Akkermans, Cisca Wijmenga, Dutch Pancreatitis Study Group

المصدر: PLoS ONE, Vol 8, Iss 12, p e85870 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24386489/pdf/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/0d88de831570400681000246b77aa6f0Test

المؤلفون: Ragna S, Boerma, Kees P, Braun, Marcel P H, van den Broek, Maarten P H, van de Broek, Frederique M C, van Berkestijn, Marielle E, Swinkels, Eveline O, Hagebeuk, Dick, Lindhout, Marjan, van Kempen, Maartje, Boon, Joost, Nicolai, Carolien G, de Kovel, Eva H, Brilstra, Bobby P C, Koeleman

المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)

المصدر: Neurotherapeutics
Neurotherapeutics, 13(1), 192. Springer New York
Neurotherapeutics, 13(1), 192-197. SPRINGER
Neurotherapeutics, 13(1), 192-197. Springer Verlag

مصطلحات موضوعية: 0301 basic medicine, Phenytoin, Male, medicine.medical_specialty, SCN8A, Neurology, Encephalopathy, Mutation, Missense, Clinical Neurology, Nerve Tissue Proteins, Pharmacology, medicine.disease_cause, PATIENT, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Sodium channel blocker, medicine, Missense mutation, Humans, Pharmacology (medical), Precision Medicine, Child, MUTATION, Mutation, Brain Diseases, business.industry, Sodium channel, phenytoin, ENCEPHALOPATHY, medicine.disease, 030104 developmental biology, Treatment Outcome, epileptic encephalopathy, NAV1.6 Voltage-Gated Sodium Channel, sodium channel blockers, Child, Preschool, Commentary, Anticonvulsants, Female, Original Article, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff71235a7be2aaf8e77e9be8eaa4c1dTest
http://europepmc.org/articles/PMC4720675Test