المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e3306fa1990545148f66b913263d56baTest

المؤلفون: Elena Donald, MD, Jay Leb, MD, Martin Bialer, MD, PhD, Kelly Axsom, MD

المصدر: JACC: Case Reports, Vol 2, Iss 7, Pp 1066-1069 (2020)

مصطلحات موضوعية: cardiomyopathy, genetic disorders, lipid metabolism disorders, pregnancy, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S266608492030485XTest; https://doaj.org/toc/2666-0849Test

الوصول الحر: https://doaj.org/article/2f89e76167504b079f707d01bf36baafTest

المؤلفون: Kim Le Cann (10030487), Jannis E. Meents (3632794), Vishal Sudha Bhagavath Eswaran (10030490), Maike F. Dohrn (3691981), Raya Bott (10030493), Andrea Maier (3500990), Martin Bialer (10030496), Petra Hautvast (10030499), Andelain Erickson (10030502), Roman Rolke (226236), Markus Rothermel (200725), Jannis Körner (10030505), Ingo Kurth (499801), Angelika Lampert (148564)

مصطلحات موضوعية: Genetics, Neuroscience, Mental Health, Infectious Diseases, Virology, Erythromelalgia, pain, orthostatic hypotension, nav1.7 mutation, hek293t cells, patch-clamp recordings, inherited pain, sodium channel, homology modeling

العلاقة: https://figshare.com/articles/journal_contribution/Assessing_the_impact_of_pain-linked_Nav1_7_variants_An_example_of_two_variants_with_no_biophysical_effect/13637162Test

الإتاحة: https://doi.org/10.6084/m9.figshare.13637162.v1Test

المؤلفون: Jay Leb, Elena Donald, Martin Bialer, Kelly Axsom

المصدر: JACC: Case Reports, Vol 2, Iss 7, Pp 1066-1069 (2020)
JACC Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, TTE, transthoracic echocardiogram, Cardiomyopathy, Case Report, 030105 genetics & heredity, Third trimester, 03 medical and health sciences, 0302 clinical medicine, Clinical Case, MTPD, mitochondrial trifunctional protein deficiency, LVEF, left ventricular ejection fraction, RV, right ventricle/ventricular, medicine, Diseases of the circulatory (Cardiovascular) system, genetic disorders, Pregnancy, Past medical history, business.industry, medicine.disease, lipid metabolism disorders, Heart failure, RC666-701, Etiology, pregnancy, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, cardiomyopathy, 030217 neurology & neurosurgery, Postpartum period, GDMT, guideline-directed medical therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99434e794b993865ce606d2dd9679819Test
http://www.sciencedirect.com/science/article/pii/S266608492030485XTest

المؤلفون: Andelain Erickson, Maike F. Dohrn, Markus Rothermel, Kim Le Cann, Ingo Kurth, Petra Hautvast, Martin Bialer, Andrea B. Maier, Jannis E. Meents, Jannis Körner, Roman Rolke, Vishal Sudha Bhagavath Eswaran, Angelika Lampert, Raya A. Bott

المصدر: Channels 15(1), 208-228 (2021). doi:10.1080/19336950.2020.1870087
Channels
article-version (VoR) Version of Record

مصطلحات موضوعية: 0301 basic medicine, Patch-Clamp Techniques, homology modeling, Biophysics, Context (language use), Bioinformatics, Biochemistry, patch-clamp recordings, Membrane Potentials, orthostatic hypotension, 03 medical and health sciences, Orthostatic vital signs, 0302 clinical medicine, Erythromelalgia, ddc:570, Medicine, Humans, pain, hek293t cells, Gene, inherited pain, business.industry, Sodium channel, nav1.7 mutation, HEK 293 cells, NAV1.7 Voltage-Gated Sodium Channel, medicine.disease, 030104 developmental biology, HEK293 Cells, NAV1, Primary Erythromelalgia, business, 030217 neurology & neurosurgery, Research Article, Research Paper, sodium channel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce1e445c17cd6dbda06d6494d60c470Test
https://publications.rwth-aachen.de/record/811537Test