المؤلفون: Stunnenberg, B. C., Ginjaar, H. B., Trip, J., Faber, C. G., van Engelen, B. G., Drost, G.

المصدر: neurogenetics. May 2010 11(2):257-260

المؤلفون: Stunnenberg, B. C.

المصدر: Neuromuscular Disorders vol.28 (2018) date: 2018-05-01 nr.5 p.402-407 [ISSN 0960-8966]

مصطلحات الفهرس: Skeletal muscle channelopathies, Non-dystrophic myotonia, Periodic paralysis, Prevalence, Netherlands, HYPOKALEMIC PERIODIC PARALYSIS, ANDERSEN-TAWIL-SYNDROME, CLCN1 MUTATIONS, MYOTONIA-CONGENITA, FAMILIES, PHENOTYPE, DUTCH, Article

URL: https://cris.maastrichtuniversity.nl/en/publications/2a8a354a-a09d-4e5e-9a11-8fbf0e21b98e
https://cris.maastrichtuniversity.nl/ws/files/77659064/Faber_2018_Prevalence_and_mutation_spectrum_of.pdf
https://cris.maastrichtuniversity.nl/ws/files/77659064/Faber_2018_Prevalence_and_mutation_spectrum_of.pdf

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المؤلفون: Stunnenberg, B. C., Woertman, W., Raaphorst, J., Timmermans, J., Alfen, N., Schouwenberg, B., Groenewoud, H., Baziel van Engelen, Drost, G., Wilt, G. J.

المصدر: ResearcherID
Web of Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::213abba377a1733821905f95609bc3b3
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000342178600011&KeyUID=WOS:000342178600011

المؤلفون: Stunnenberg BC; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Bas.Stunnenberg@radboudumc.nl., Raaphorst J; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Deenen JCW; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Links TP; Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Wilde AA; Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Medical Centre, Amsterdam, The Netherlands., Verbove DJ; Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Faber CG; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands., van der Wilt GJ; Department of Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Drost G; Department of Neurology and Neurosurgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Ginjaar HB; Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 May; Vol. 28 (5), pp. 402-407. Date of Electronic Publication: 2018 Mar 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Andersen Syndrome/*epidemiology , Channelopathies/*epidemiology , Hypokalemic Periodic Paralysis/*epidemiology , Myotonia/*epidemiology , Myotonic Disorders/*epidemiology, Adult ; Aged ; Andersen Syndrome/genetics ; Calcium Channels/genetics ; Calcium Channels, L-Type ; Channelopathies/genetics ; Chloride Channels/genetics ; Female ; Humans ; Hypokalemic Periodic Paralysis/genetics ; Male ; Middle Aged ; Myotonia/genetics ; Myotonic Disorders/genetics ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Netherlands/epidemiology ; Pedigree ; Potassium Channels, Inwardly Rectifying/genetics ; Prevalence ; Young Adult