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1KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
المؤلفون: Claudia Schob, Heidi L. Rehm, Johannes R. Lemke, Brianna Pruniski, Yongqiang Zhang, Stefan Kindler, Claudia A. L. Ruivenkamp, Tiffani L McDonough, Arie van Haeringen, Ulrike B. S. Hedrich, Robert Bähring, Grace E. VanNoy, Hanno J. Bolz, Emily Bryant, Trine Prescott, Holger Lerche, Georgios Tachtsidis, Kristian Tveten, Heather M. McLaughlin, Mahmoud Koko, Thorsten Gerstner, Stephanie DiTroia, U. Zechner
المصدر: Human Molecular Genetics, 30(23), 2300-2314. OXFORD UNIV PRESS
Hum Mol Genetمصطلحات موضوعية: Male, Developmental Disabilities, Voltage clamp, Mutant, Xenopus, Gating, Biology, Genetics, Humans, Homomeric, Missense mutation, Global developmental delay, Molecular Biology, Alleles, Genetics (clinical), Infant, Newborn, Wild type, Genetic Variation, Infant, General Medicine, biology.organism_classification, Cell biology, Protein Subunits, Phenotype, Shal Potassium Channels, Amino Acid Substitution, Mutation, Female, Disease Susceptibility, General Article, Ion Channel Gating, Biomarkers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438641d24be9f024344f14a1dc669a1
https://hdl.handle.net/1887/3257107 -
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المؤلفون: Jillian N. Pearring, Jason R. Willer, Joachim Wolf, Mattias Van Heetvelde, Heidi Stöhr, Anne-Françoise Roux, Heidi Rossmann, Nafisa Nuzhat, David Rosenkranz, Jennifer Winter, Sabine Grasshoff-Derr, Kristof Van Schil, Sandra Liakopoulos, Robert Merget, Luke Mansard, Miriam Bauwens, Hanh Truong, Hanno J. Bolz, Peter Nürnberg, Nuria Gruartmoner, Holger Thiele, U. Zechner, Anne Hoorens, Alfredo Dueñas Rey, Thomas Langmann, Melanie Jäger, Karl Martin Wissing, Stephan Käseberg, Friederike Häuser, Jo Van Dorpe, Elfride De Baere, Michel Van Lint, Katharina Dannhausen
مصطلحات موضوعية: Retinal degeneration, Ciliopathy, Centriole, Ciliogenesis, Cilium, Retinitis pigmentosa, medicine, Basal body, Biology, medicine.disease, Ciliopathies, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6b89eeab7b6bbfdacb15c2e8642daa6
https://doi.org/10.1101/2021.11.23.469779 -
3دورية أكاديمية
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المؤلفون: Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gödde, Silvia Vogel, Frauke Schuster, Valerie Orth, Johannes Dörner, Daniel Pembaur, Meike Röper, Stefan Störkel, Hubert Zirngibl, Stefan Wirth, Andreas C. W. Jenke, Jan Postberg, Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Peter Burgard, Stefan Kölker, Cho-Ming Chao, Faady Yahya, Alena Moiseenko, Amit Shrestha, Negah Ahmadvand, Jennifer Quantius, Jochen Wilhelm, Elie El-Agha, Klaus-Peter Zimmer, Saverio Bellusci, Christian Staufner, Holger Prokisch, Stephan Seeliger, Matthias Müller, Andreas Hippe, Henrik Steinkraus, Roland Wauer, Burkhard Lachmann, Sigrun R. Hofmann, Christian M. Hedrich, Jakob Zierk, Farhad Arzideh, Rainer Haeckel, Wolfgang Rascher, Manfred Rauh, Markus Metzler, Sebastian Thieme, Joanna Bandoła, Cornelia Richter, Martin Ryser, Arshad Jamal, Michelle P. Ashton, Malte von Bonin, Matthias Kuhn, Ezio Bonifacio, Reinhard Berner, Sebastian Brenner, Johanna Hammersen, Cristina Has, Nora Naumann-Bartsch, Daniel Stachel, Dimitra Kiritsi, Stephan Söder, Mathilde Tardieu, Leena Bruckner-Tuderman, Holm Schneider, F. Bohne, D. Langer, R. Cencic, T. Eggermann, U. Zechner, J. Pelletier, F. Zepp, T. Enklaar, D. Prawitt, Martin Pech, Markus Weckmann, Femke-Anouska Heinsen, Andre Franke, Christine Happle, Anna-Maria Dittrich, Gesine Hansen, Oliver Fuchs, Erika von Mutius, Brian G. Oliver, Matthias V. Kopp, Claudia Paret, Alexandra Russo, Johanna Theruvath, Bettina Keller, Khalifa El Malki, Nadine Lehmann, Arthur Wingerter, Marie A. Neu, Gerhold-Ay Aslihan, Wolfgang Wagner, Clemens Sommer, Torsten Pietsch, Larissa Seidmann, Jörg Faber, Felix Schreiner, Merle Ackermann, Michael Michalik, Eva Rother, Andras Bilkei-Gorzo, Ildiko Racz, Laura Bindila, Beat Lutz, Jörg Dötsch, Andreas Zimmer, Joachim Woelfle, Hendrik S. Fischer, Tim L. Ullrich, Christoph Bührer, Christoph Czernik, Gerd Schmalisch, Robert Stein, Judith Hagenbuchner, Ursula Kiechl-Kohlendorfer, Petra Obexer, Michael J. Ausserlechner, Niki T. Loges, Adrien Tobias Frommer, Julia Wallmeier, Heymut Omran, Soner Öner-Sieben, Martina Gimpfl, Jan Rozman, Martin Irmler, Johannes Beckers, Martin Hrabe De Angelis, Adelbert Roscher, Eckhard Wolf, Regina Ensenauer, Karolina Nemes, Michael Frühwald, Martin Hasselblatt, Reiner Siebert, Uwe Kordes, Marcel Kool, Haicui Wang, Holly Hardy, Osama Refai, Katy E. S. Barwick, Holly H. Zimmerman, Joachim Weis, Emma L. Baple, Andrew H. Crosby, Sebahattin Cirak, C. Hellmuth, O. Uhl, M. Standl, J. Heinrich, E. Thiering, B. Koletzko, Lena Blümel, Kornelius Kerl, Daniel Picard, Michael C. Frühwald, Max C. Liebau, Guido Reifenberger, Arndt Borkhardt, Marc Remke, D. Tews, M. Wabitsch, P. Fischer-Posovszky, Mike-Andrew Westhoff, Lisa Nonnenmacher, Julia Langhans, Lukas Schneele, Nancy Trenkler, Klaus-Michael Debatin
المصدر: Mol. Cell. Pediatr. 4, 1:5 (2017)
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, business.industry, Pediatric research, MEDLINE, Pharmaceutical Science, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Complementary and alternative medicine, Medicine, Pharmacology (medical), business, Intensive care medicine, 030304 developmental biology, Primary ciliary dyskinesia
وصف الملف: application/pdf
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المؤلفون: U. Zechner, H. Lehnen
المصدر: Gynäkologische Endokrinologie. 12:79-86
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Reproductive Medicine, business.industry, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, medicine, Obstetrics and Gynecology, business
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6دورية أكاديمية
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7دورية أكاديمية
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المؤلفون: Thomas Haaf, Marcus Dittrich, Harald Lehnen, Michael Korenkov, Tobias Müller, Melanie Aretz, Nady El Hajj, Galyna Pliushch, U. Zechner, Eberhard Schneider
المصدر: Diabetes
مصطلحات موضوعية: Adult, medicine.medical_specialty, Tumor suppressor gene, Offspring, Placenta, Endocrinology, Diabetes and Metabolism, Biology, Epigenesis, Genetic, Pregnancy, Internal medicine, Internal Medicine, medicine, Humans, Insulin, Obesity, Epigenetics, Regulation of gene expression, Infant, Newborn, Proteins, Epigenome, DNA Methylation, Fetal Blood, medicine.disease, Gestational diabetes, Diabetes, Gestational, Endocrinology, Gene Expression Regulation, Multigene Family, Prenatal Exposure Delayed Effects, DNA methylation, Commentary, Female, Genomic imprinting
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المؤلفون: B. Leheup, V. David, J. Kaplan, L. Pasquier, D. Jonas, A. Laquerrière, C. Bendavid, E. Baselga, J.B. Mulliken, Augusto Rojas-Martinez, O. Patat, Juliana F. Mazzeu, L.M. Boon, R.M. Candido Sandri, I. Gicquel, A. Bygum, Thomas Haaf, M. Vikkula, Lizeth Martínez-Jacobo, Martin Poot, E. Burgdörfer, J. Tantau, C. Dubourg, N. Corsten-Janssen, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, H. Dornelles-Wawruk, Ana Cristina Victorino Krepischi, L.A. Ribeiro-Bicudo, C. van der Vleuten, M. Beri, P. Loget, P. Marcorelles, O. Bartsch, J.E. Chernos, S. Jaillard, S. Odent, C. Saucedo-Carrasco, A. Richieri-Costa, Carlos Córdova-Fletes, L. Ratié, Carla Rosenberg, F. Démurger, A. Ghalamkarpour, T. Dijkhuizen, C. Evain, J.P. van Tintelen, C.M.A. van Ravenswaaij-Arts, N. Chassaing, A. Irrthum, Aline Pic-Taylor, H.L. Nguyen, C. de Campos Legnaro, Rocio Ortiz-Lopez, M.S. Connelly, P. Brouillard, J.P.H. Wyse, C. Quelin, Fernando Rivas, A. Mendola, E. Fastré, U. Zechner, Iris Ferrari, D. Martin-Coignard, M.J. Schlögel, C. Fagerberg, H.P.N. Safatle, V. Dupé, D. Weise, R.B. Lowry, S. Mercier, I. Quere, B.F. Gamba, J. Lespinasse, M. Korenkov
المصدر: Molecular Syndromology. 4:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Michael Korenkov, D. Jonas, Thomas Haaf, U. Zechner, O. Bartsch, D. Weise, E. Burgdörfer
المصدر: Molecular Syndromology. 4:273-279
مصطلحات موضوعية: medicine.medical_specialty, business.industry, INSIG2, nutritional and metabolic diseases, Single-nucleotide polymorphism, Odds ratio, Type 2 diabetes, medicine.disease, Obesity, Impaired glucose tolerance, Endocrinology, Internal medicine, Genotype, Genetics, medicine, Original Article, business, Body mass index, Genetics (clinical)