المؤلفون: Bojana Jovanović, Daniel Temko, Laura E. Stevens, Marco Seehawer, Anne Fassl, Katherine Murphy, Jayati Anand, Kodie Garza, Anushree Gulvady, Xintao Qiu, Nicholas W. Harper, Veerle W. Daniels, Huang Xiao-Yun, Jennifer Y. Ge, Maša Alečković, Jason Pyrdol, Kunihiko Hinohara, Shawn B. Egri, Malvina Papanastasiou, Raga Vadhi, Alba Font-Tello, Robert Witwicki, Guillermo Peluffo, Anne Trinh, Shaokun Shu, Benedetto Diciaccio, Muhammad B. Ekram, Ashim Subedee, Zachary T. Herbert, Kai W. Wucherpfennig, Anthony G. Letai, Jacob D. Jaffe, Piotr Sicinski, Myles Brown, Deborah Dillon, Henry W. Long, Franziska Michor, Kornelia Polyak

المصدر: Cell Reports, Vol 42, Iss 12, Pp 113564- (2023)

مصطلحات موضوعية: CP: Cancer, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124723015760; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/5b7a46fb42fa443eac6a172b0b60048f

المؤلفون: Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M. Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, Jacques S. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Robert Witwicki, Gérard Didelot, Ilse van der Werf, Ali A. Alfaiz, Marianna Zazhytska, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltan Kutalik, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Bena, Anita Rauch, Sonia Bouquillon, Bruno Delobel, Odile Boute, Bénédicte Duban-Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiesa, Boris Keren, Brigitte Gilbert-Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck Thambo, Michèle Mathieu-Dramard, Ghislaine Plessis, Frank Kooy, Hilde Peeters, Katrin Ounap, Anneke T. Vulto-van Silfhout, Bert B. de Vries, Ellen van Binsbergen, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan-Separovic, John A. Philipps, Richard J. Ellis

المساهمون: Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), University of Zurich, Katsanis, Nicholas

المصدر: American journal of human genetics, 96(5), 784-796. Cell Press
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American Journal of Human Genetics, 96(5), 784. Cell Press
American journal of human genetics, 96(5), 784-96. Cell Press
16p11.2 European Consortium 2015, ' A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology ', American journal of human genetics, vol. 96, no. 5, pp. 784-96 . https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 784-96

مصطلحات موضوعية: Potassium Channels, 10039 Institute of Medical Genetics, BBS7, Ciliopathies, Transcriptome, Mice, 0302 clinical medicine, Gene duplication, Genetics(clinical), Non-U.S. Gov't, Child, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Research Support, Non-U.S. Gov't, Brain, Voltage-Gated, Phenotype, medicine.anatomical_structure, Potassium Channels, Voltage-Gated, Chromosome Deletion, Human, 2716 Genetics (clinical), Child Development Disorders, DNA Copy Number Variations, 610 Medicine & health, Biology, Research Support, Article, Chromosomes, N.I.H, 03 medical and health sciences, Ciliary body, 1311 Genetics, Research Support, N.I.H., Extramural, mental disorders, medicine, Journal Article, Animals, Humans, 030304 developmental biology, Pervasive, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, Ciliary Body, Extramural, Zebrafish Proteins, medicine.disease, biology.organism_classification, Ciliopathy, Gene Expression Regulation, Child Development Disorders, Pervasive, Chromosomes, Human, Pair 16, Schizophrenia, 570 Life sciences, biology, 030217 neurology & neurosurgery

وصف الملف: image/pdf; Migliavacca E et al, A Potential Contributory Role.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4981bcb78f389f2c4242a28acb5843
https://pure.amc.nl/en/publications/a-potential-contributory-role-for-ciliary-dysfunction-in-the-16p112-600-kb-bp4bp5-pathology(acf5d89c-bed0-43e8-b61c-d793bebcc448).html