نتائج البحث - "Joana Larupa Santos"

المصدر: Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456, pp. 1-14 . https://doi.org/10.3390/biomedicines8110456Test
Biomedicines
Biomedicines, Vol 8, Iss 456, p 456 (2020)
Volume 8
Issue 11
BASE-Bielefeld Academic Search Engine
Döring, J H, Saffari, A, Bast, T, Brockmann, K, Ehrhardt, L, Fazeli, W, Janzarik, W G, Kluger, G, Muhle, H, Møller, R S, Platzer, K, Santos, J L, Bache, I, Bertsche, A, Bonfert, M, Borggräfe, I, Broser, P J, Datta, A N, Hammer, T B, Hartmann, H, Hasse-Wittmer, A, Henneke, M, Kühne, H, Lemke, J R, Maier, O, Matzker, E, Merkenschlager, A, Opp, J, Patzer, S, Rostasy, K, Stark, B, Strzelczyk, A, von Stülpnagel, C, Weber, Y, Wolff, M, Zirn, B, Hoffmann, G F, Kölker, S, Syrbe, S & PRRT2-Study-Group 2020, ' The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood ', Biomedicines, vol. 8, no. 11, 456 . https://doi.org/10.3390/biomedicines8110456Test

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Movement disorders, BFIS, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, Article, Hemiplegic migraine, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Phenotypic spectrum, PKD/IC, Medicine, ddc:610, familial infantile epilepsy, lcsh:QH301-705.5, Familial hemiplegic migraine, Familial infantile epilepsy, Episodic ataxia, hemiplegic migraine, business.industry, PKD, Paroxysmal dyskinesia, medicine.disease, 3. Good health, 030104 developmental biology, lcsh:Biology (General), Cohort, PRRT2, medicine.symptom, business, 030217 neurology & neurosurgery, Benign infantile epilepsy, phenotypic spectrum

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886cd8b036616df0ed676ae6cdf586a2Test
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/56837Test

7

A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation

المؤلفون: Jesper Hastrup Svendsen, Gustav Ahlberg, Morten S. Olesen, Thea Hyttel Hansen, Lena Refsgaard, Oliver Bundgaard Vad, Nicole Schmitt, Joana Larupa Santos, Yannan Yan, Bo Hjorth Bentzen, Nancy Mutsaers

المصدر: Hansen, T H, Yan, Y, Ahlberg, G, Vad, O B, Refsgaard, L, Dos Santos, J L, Mutsaers, N, Svendsen, J H, Olesen, M S, Bentzen, B H & Schmitt, N 2020, ' A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation ', Scientific Reports, vol. 10, no. 1, 1453 . https://doi.org/10.1038/s41598-020-58475-9Test
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Risk, Heterozygote, Adolescent, Genotype, Denmark, lcsh:Medicine, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Chloride Channels, Loss of Function Mutation, medicine, Humans, Genetic Predisposition to Disease, lcsh:Science, Gene, Exome sequencing, Loss function, Genetic Association Studies, CLCN2, Multidisciplinary, Ion Transport, Polymorphism, Genetic, biology, lcsh:R, Wild type, Atrial fibrillation, Heterozygote advantage, Heart, Cardiovascular genetics, Middle Aged, medicine.disease, Molecular biology, Pedigree, CLC-2 Chloride Channels, 030104 developmental biology, Chloride channel, biology.protein, lcsh:Q, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce07fc9ad32957315fdbe98200da4a63Test
https://curis.ku.dk/portal/da/publications/a-novel-lossoffunction-variant-in-the-chloride-ion-channel-gene-clcn2-associates-with-atrial-fibrillationTest(f958b581-00a2-4d8f-8164-beacb8152463).html

8

Termination of Vernakalant-Resistant Atrial Fibrillation by Inhibition of Small-Conductance Ca 2+ -Activated K + Channels in Pigs

المؤلفون: Ulrik Svane Sørensen, Rafel Simó-Vicens, Carlotta Citerni, Lasse Skibsbye, Bo Hjorth Bentzen, Jesper Hastrup Svendsen, Morten Grunnet, Joana Larupa Santos, Daniel Sauter, Pia R. Lundegaard, Jonas Goldin Diness, Thomas Jespersen, Sofia Hammami Bomholtz, Søren-Peter Olesen

المصدر: Circulation: Arrhythmia and Electrophysiology
Diness, J G, Skibsbye, L, Simó-Vicens, R, Louro Larupa dos Santos, J, Lundegaard, P R, Citerni, C, Sauter, D R P, Bomholtz, S H, Svendsen, J H, Olesen, S-P, Sørensen, U S, Jespersen, T, Grunnet, M & Bentzen, B H 2017, ' Termination of Vernakalant-Resistant Atrial Fibrillation by Inhibition of Small-Conductance Ca2+-Activated K+ Channels in Pigs ', Circulation: Arrhythmia and Electrophysiology, vol. 10, e005125 . https://doi.org/10.1161/CIRCEP.117.005125Test
Circulation. Arrhythmia and Electrophysiology

مصطلحات موضوعية: 0301 basic medicine, Faculty of Health and Medical Sciences, Patch-Clamp Techniques, Pyrrolidines, Refractory Period, Electrophysiological, Refractory period, Small-Conductance Calcium-Activated Potassium Channels, Swine, Blood Pressure, 030204 cardiovascular system & hematology, Pharmacology, small conductance calcium-activated potassium channels, vernakalant, Vernakalant, Potassium Channels, Calcium-Activated, chemistry.chemical_compound, 0302 clinical medicine, Acetamides, Atrial Fibrillation, Medicine, Sinus rhythm, AP14145, Cardiac Pacing, Artificial, blood pressure, Atrial fibrillation, 3. Good health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Cardiology, Disease Progression, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents, medicine.medical_specialty, Anisoles, Article, SK channel, 03 medical and health sciences, Refractory, Physiology (medical), Internal medicine, Animals, Patch clamp, Heart Atria, business.industry, Original Articles, medicine.disease, Disease Models, Animal, 030104 developmental biology, Blood pressure, heart atria, chemistry, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07406a14cc4b227c9156d963b7670a3Test

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