المؤلفون: Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt

المصدر: iScience, Vol 28, Iss 2, Pp 111670- (2025)

مصطلحات موضوعية: Cell biology, Cellular physiology, Human Genetics, Integrative aspects of cell biology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004224028979; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/7a7a4c3e3422406b806dee39a3c4b48f

المؤلفون: Laura R. Claus, Iris Lekkerkerker, Bert van der Zwaag, Tri Q. Nguyen, Nine V.A.M. Knoers, Martin H. de Borst, Maarten B. Rookmaker, Marc R. Lilien, Albertien M. van Eerde

المصدر: Rare, Vol 2, Iss , Pp 100030- (2024)

مصطلحات موضوعية: Monogenic kidney disease, Biobank, Genetics, Translational nephrogenetics, Medicine, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950008724000139; https://doaj.org/toc/2950-0087

URL الوصول: https://doaj.org/article/9b7fa0bb5f9b4ad99c11708fe4eb1b1f

المؤلفون: Tanja C W Nijboer, Ellen V S Hessel, Gijs W van Haaften, Martine J van Zandvoort, Peter J van der Spek, Christine Troelstra, Carolien G F de Kovel, Bobby P C Koeleman, Bert van der Zwaag, Eva H Brilstra, J Peter H Burbach

المصدر: PLoS ONE, Vol 18, Iss 9, p e0290013 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0290013&type=printable; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/437e002c511c4c28b84eb313bb4302a8

المؤلفون: Noémi B. A. Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria del Mar Mañú-Pereira, Elisa Fermo, Immacolata Andolfo, Barnaby Clark, Melanie Proven, Mayka Sanchez, Richard van Wijk, Bert van der Zwaag, Mark Layton, David Rees, Achille Iolascon, on behalf of the British Society for Haematology and the European Hematology Association

المصدر: HemaSphere, Vol 6, Iss 6, p e739 (2022)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/HS9.0000000000000739; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/9374bbd49e7c4657be3e9a7c2dd0e7d2

المؤلفون: Nine V A M Knoers, Liffert Vogt, Martin H de Borst, Bert van der Zwaag, Mark Eijgelsheim, Amber de Haan, Albertien M van Eerde

المصدر: BMJ Open, Vol 12, Iss 4 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/12/4/e057829.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/902418779432476f94ecc19a468961b8

المؤلفون: Mesut Savas, Vincent L. Wester, Jenny A. Visser, Lotte Kleinendorst, Bert van der Zwaag, Mieke M. van Haelst, Erica L.T. van den Akker, Elisabeth F.C. van Rossum

المصدر: Obesity Facts, Vol 12, Iss 4, Pp 369-384 (2019)

مصطلحات موضوعية: Obesity, Genetics, Secondary causes, Drugs, Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/499978; https://doaj.org/toc/1662-4025; https://doaj.org/toc/1662-4033

URL الوصول: https://doaj.org/article/31afb469ce2e44f883f263e71073d85b

المؤلفون: Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H T M Jongejan, Annelies E Brandsma, Jenny A Visser, Elisabeth F C van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M J Boon, Mieke M van Haelst, Erica L T van den Akker

المصدر: PLoS ONE, Vol 15, Iss 5, p e0232990 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a26387aaf7fd485899bbaa1654ae7ee7

المؤلفون: Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H T M Jongejan, Annelies E Brandsma, Jenny A Visser, Elisabeth F C van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M J Boon, Mieke M van Haelst, Erica L T van den Akker

المصدر: PLoS ONE, Vol 15, Iss 12, p e0244508 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6357abef6fb44c8c86e957dceb415437

المؤلفون: Annelies van Vuren, Bert van der Zwaag, Rick Huisjes, Nathalie Lak, Marc Bierings, Egbert Gerritsen, Eduard van Beers, Marije Bartels, Richard van Wijk

المصدر: HemaSphere, Vol 3, Iss 4 (2019)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/HS9.0000000000000276; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/d5f51408f9bc40ef91dbea404efac77a

المؤلفون: Amila Zuko, Asami Oguro-Ando, Harm Post, Renske L.R.E. Taggenbrock, Roland E. van Dijk, Maarten Altelaar, Albert J R Heck, Alexander G Petrenko, Bert van der Zwaag, Yasushi Shimoda, R. Jeroen Pasterkamp, J. Peter H. Burbach

المصدر: Frontiers in Molecular Neuroscience, Vol 9 (2016)

مصطلحات موضوعية: Apoptosis, Cell Adhesion Molecules, Neuronal, autism, ASD, Neurodevelopmental disorders, Neuronal outgrowth, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fnmol.2016.00143/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/c6bf140738f3416cb64bb637ae7ca4b6

المؤلفون: Timothy J. Satchwell, Amanda J. Bell, Bethan R. Hawley, Stephanie Pellegrin, Kathryn E. Mordue, Cees Th. B. M. van Deursen, Nicole Heitink-ter Braak, Gerwin Huls, Mathie P.G Leers, Eline Overwater, Rienk Y. J. Tamminga, Bert van der Zwaag, Elisa Fermo, Paola Bianchi, Richard van Wijk, Ashley M. Toye

المصدر: Haematologica, Vol 101, Iss 9 (2016)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/7814; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/fd21b983b35844cfb39c72239f261d93

المؤلفون: Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A Spierenburg, Jacob A S Vorstman, Emma van Daalen, Maretha V de Jonge, Nienke E Verbeek, Eva H Brilstra, Ruben van 't Slot, Roel A Ophoff, Michael A van Es, Hylke M Blauw, Jan H Veldink, Jacobine E Buizer-Voskamp, Frits A Beemer, Leonard H van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Herman van Engeland, J Peter H Burbach, Wouter G Staal

المصدر: PLoS ONE, Vol 4, Iss 5, p e5324 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2683930?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/115a6726e5774d2e93fc65849cc3a2e9

المؤلفون: Myrthe J. van Dijk, Brigitte A. van Oirschot, Manon C. Stam‐Slob, Esmé Waanders, Bert van der Zwaag, Eduard J. van Beers, Judith J. M. Jans, Peter Willem van der Linden, Jose M. Torregrosa Diaz, Betty Gardie, François Girodon, Rik Schots, Noortje Thielen, Richard van Wijk

المساهمون: Clinical sciences, Hematology

المصدر: British Journal of Haematology. 200:249-255

مصطلحات موضوعية: bisphosphoglycerate mutase deficiency, Congenital, Heterozygosity, Internal Medicine, red blood cell mass, Hematology, Erythrocytosis, clinical

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c5abbbfdd71da7b83492671ff7039ad
https://doi.org/10.1111/bjh.18485

المؤلفون: Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pediatrics, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain, 145(9), 2991-3009. Oxford University Press

مصطلحات موضوعية: medicine.medical_specialty, SCN8A, Gastroenterology, Epilepsy, Sodium channel blocker, Neurodevelopmental disorder, Seizures, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, genetics, Generalized epilepsy, Genetic Association Studies, Benign familial infantile epilepsy, Generalized, business.industry, Infant, personalized medicine, Prognosis, medicine.disease, Phenotype, Settore MED/39 - Neuropsichiatria Infantile, NAV1.6 Voltage-Gated Sodium Channel, Mutation, epilepsy, Original Article, Epilepsy, Generalized, Human medicine, Neurology (clinical), Age of onset, business, Epileptic Syndromes, Sodium Channel Blockers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3de186f73a35fb1500a80403bc648
https://doi.org/10.1093/brain/awab321

المؤلفون: Floranne Boulogne, Laura Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schönauer, Zhigui Li, Emilia Bijlsma, Willem Jan Bos, Jan Halbritter, Nine Knoers, Whitney Besse, Patrick Deelen, Lude Franke, Albertien van Eerde

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36c4362c139d6655acdc5a724d222027
https://doi.org/10.21203/rs.3.rs-1870632/v1

المؤلفون: Amber de Haan, Mark Eijgelsheim, Patrick Rump, Bert Van der Zwaag, Martina Zivna, Stanislav Kmoch, Anthony Bleyer, Kendrah Kidd, Albertien M Van Eerde, Nine Knoers, Martin De Borst

المصدر: Nephrology Dialysis Transplantation. 37

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ab8864704307e008a271bce223377951
https://doi.org/10.1093/ndt/gfac062.015

المؤلفون: Henry Wiersma, Lude Franke, Floor Schukking, Jan Halbritter, Floranne Boulogne, Shuang Li, Harm-Jan Westra, Nine V A M Knoers, Niek de Klein, Albertien M. van Eerde, Franka E. van Reekum, Roy Oelen, Bert van der Zwaag, Laura R. Claus, Patrick Deelen

المصدر: Nephrology Dialysis Transplantation. 36

مصطلحات موضوعية: Transplantation, Kidney, business.industry, Computational biology, medicine.disease, Novel gene, medicine.anatomical_structure, Text mining, Nephrology, Fibrosis, Gene expression, medicine, business, Candidate Disease Gene, Gene, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2526215f56e2a7444c3f60610305fb8
https://doi.org/10.1093/ndt/gfab131.001

المؤلفون: Arve Vøllo, Stephen W. Scherer, Elena Gardella, Irina Mishina, María Vaccarezza, Jennifer L. Howe, Sebastian Lebon, Josua Kegele, Gaetan Lesca, Timo Roser, Silvia Masnada, Johannes Rebstock, Marga Buzatu, Damien Lederer, Ingo Borggraefe, Tobias Brünger, Ulrike B. S. Hedrich, Sergey Korostelev, Frédéric Bilan, Ahmed Eltokhi, M. Mahdi Motazacker, Karen E. Wain, Susanne Ruf, Manuela Pendziwiat, Lukas Sonnenberg, Yuanyuan Liu, Alice W Ho, Silvana Franceschetti, Jan Benda, Ethan M. Goldberg, Helene Verhelst, Julian Schubert, Juliann M. Savatt, Mathilde Nizon, Caroline Lund, Katherine B. Howell, Tobias Loddenkemper, Katherine L. Helbig, Cornelia Betzler, Roseline Caume, Francesca Darra, Richard J. Leventer, Christina Fenger, Pierangelo Veggiotti, Ilona Krey, Nancy Eisenhauer, Andrea Berger, Pasquale Striano, Heather E. Olson, An-Sofie Schoonjans, M Scott Perry, Stephan Lauxmann, Emmanuel Scalais, Petra Laššuthová, Monisa D. Wagner, Ilya V. Kanivets, A. A. Sharkov, P Y Billie Au, Mahmoud Koko, Siddharth Srivastava, Jakob Christensen, Artem Borovikov, Mette U Schmidt-Petersen, Anna Jansen, Judith S. Verhoeven, Johanna Krüger, Claudia M Bonardi, Shoji Ichikawa, Patrick May, Sabine Grønborg, Johannes R. Lemke, Marije Meuwissen, Katalin Sterbova, Mark Fitzgerald, Lucio Giordano, Holger Lerche, Mikhail Abramov, Bénédicte Gérard, Elena L. Dadali, Cecilia Altuzarra, Aster V. E. Harder, Stefano Sartori, Katrine M Johannesen, Sergey Kutsev, Maert Rannap, Renzo Guerrini, Dagmar Wieczorek, Laura Canafoglia, Annapurna Poduri, Christina E. Hoei-Hansen, Agathe Roubertie, Nils A Koch, Karen Müller-Schlüter, Chloe A Stutterd, Ngoc Minh Le, Pia Zacher, Constanze Heine, Sonja Walsh, Carla Marini, Federico Zara, Karl Martin Klein, Eva H. Brilstra, Guido Rubboli, Walid Fazeli, Judith Kroell-Seger, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Phillis Lakeman, Massimo Mastrangelo, Margarete Koch-Hogrebe, Ingo Helbig, Daniel Tibussek, Marketa Vlckova, Anne Destrée, Wen-Hann Tan, Haim Bassan, Dennis Lal, Patrizia Accorsi, Bert van der Zwaag, Cathrine E Gjerulfsen, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Marie-Cécile Nassogne

مصطلحات موضوعية: medicine.medical_specialty, Benign familial infantile epilepsy, business.industry, medicine.disease, Gastroenterology, Phenotype, Epilepsy, Electrophysiology, Sodium channel blocker, Internal medicine, medicine, Missense mutation, Generalized epilepsy, business, Genotype-Phenotype Correlations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35d884802200fc5b70287f52bd03bbc0
https://doi.org/10.1101/2021.03.22.21253711

المؤلفون: Henry Wiersma, Dana Sierks, Niek de Klein, Patrick Deelen, Floranne Boulogne, Ria Schönauer, Bert van der Zwaag, Franka E. van Reekum, Jan Halbritter, Floor Schukking, Roy Oelen, Shuang Li, Harm-Jan Westra, Lude Franke, Albertien M. van Eerde, Laura R. Claus, Nine V A M Knoers

مصطلحات موضوعية: Cystic kidney, Candidate gene, medicine.diagnostic_test, Genetic variation, medicine, Computational biology, Disease, Biology, medicine.disease, Gene, Exome sequencing, Genetic testing, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba3a16be56d7df86e3467f8b49cb5784
https://doi.org/10.1101/2021.03.10.21253054

المؤلفون: Maarten B. Rookmaaker, Albertien M. van Eerde, Roel Goldschmeding, Tri Q. Nguyen, Bert van der Zwaag, Richard H. van Jaarsveld, Robert F Ernst, Edith D.J. Peters, Eric Spierings, Arjan D. van Zuilen, Rozemarijn Snoek, Marc R. Lilien, Nine V A M Knoers, Martin G Elferink

المصدر: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37(2)

مصطلحات موضوعية: 0301 basic medicine, 030232 urology & nephrology, Disease, Genetic analysis, Monogenic disease, Kidney transplant, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Biopsy, Medicine, Humans, Genetic Testing, Renal Insufficiency, Chronic, Exome sequencing, Genetic testing, Retrospective Studies, Genetics, Transplantation, medicine.diagnostic_test, business.industry, Middle Aged, 030104 developmental biology, Nephrology, Cohort, Kidney Failure, Chronic, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ab0ee298a6fed6f6c7e54c4dcf22f0
https://pubmed.ncbi.nlm.nih.gov/33306124