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1دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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2دورية أكاديمية
المؤلفون: Daniel Woike, Emily Wang, Debora Tibbe, Fatemeh Hassani Nia, Antonio Virgilio Failla, Maria Kibæk, Tinett Martesen Overgård, Martin J. Larsen, Christina R. Fagerberg, Igor Barsukov, Hans-Jürgen Kreienkamp
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-19 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Sofus Sølyst, Riina Oksjoki, Stense Farholt, Dorte Guldbrand Nielsen, Alex H. Christensen, Christina R. Fagerberg, Lotte Risom, Pernille Axél Gregersen, Maria Bejerholm Christensen, Torsten Bloch Rasmussen, Birgitte Rode Diness
المصدر: Sølyst, S, Oksjoki, R, Farholt, S, Nielsen, D G, Christensen, A H, Fagerberg, C R, Risom, L, Gregersen, P A, Christensen, M B, Rasmussen, T B & Diness, B R 2022, ' Carriers of COL3A1 pathogenic variants in Denmark : Interfamilial variability in severity and outcome of elective surgical procedures ', Clinical Genetics, vol. 102, no. 3, pp. 191-200 . https://doi.org/10.1111/cge.14176
مصطلحات موضوعية: COL3A1, Denmark, surgical complications, vascular Ehlers–Danlos syndrome, vEDS, Collagen Type III, Elective Surgical Procedures, genotype–phenotype, Genetics, vascular EDS, Humans, Ehlers-Danlos Syndrome, Genetics (clinical), Retrospective Studies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff77533f9afc06aa90570cdcb5df2b51
https://pure.au.dk/portal/da/publications/carriers-of-col3a1-pathogenic-variants-in-denmark(b172aa78-a82a-467c-ad0d-486a3038d6e3).html -
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المؤلفون: Uffe Birk Jensen, Tiffany Busa, Simon Holden, Thorkild Terkelsen, Niels Ove Illum, Christina R. Fagerberg, Chantal Missirian, Kate Chandler, Charlotte Brasch-Andersen
المصدر: Terkelsen, T, Brasch-Andersen, C, Illum, N, Busa, T, Missirian, C, Chandler, K, Holden, S T, Jensen, U B & Fagerberg, C R 2022, ' Mono-allelic loss of YTHDF3 and neurodevelopmental disorder : clinical features of four individuals with 8q12.3 deletions ', Clinical Genetics, vol. 101, no. 2, pp. 208-213 . https://doi.org/10.1111/cge.14083
مصطلحات موضوعية: Male, Adolescent, Loss of Heterozygosity, Biology, Young Adult, Neurodevelopmental disorder, M(6)A, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, human, Child, Gene, Genetics (clinical), Loss function, Domain family, Alleles, Genetic Association Studies, YTHDF3 protein, chromosome deletion, RNA-Binding Proteins, Heterozygote advantage, medicine.disease, heterozygote, developmental delay, Phenotype, Neurodevelopmental Disorders, intellectual disability, Female, Chromosome Deletion, TRANSLATION, Haploinsufficiency, MESSENGER-RNA, DECAY, Allelic loss, Chromosomes, Human, Pair 8
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfd694b1b413e6ad4147398b027c8ee
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html -
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المؤلفون: Uffe Birk Jensen, Thorkild Terkelsen, Chantal Missirian, Simon Holden, Tiffany Busa, Christina R. Fagerberg, Niels Ove Illum, Charlotte Brasch-Andersen, Kate Chandler
مصطلحات موضوعية: Genetics, Neurodevelopmental disorder, medicine, Biology, medicine.disease, Allelic loss
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a993f60bc599fb2beaef3072092f57c1
https://doi.org/10.1111/cge.14083/v2/response1 -
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المؤلفون: Michael J. Parker, Maria Lisa Dentici, Sara Loddo, Andrew E. Fry, Farah Kanani, Line Aagaard Nolting, Joss Shelagh, Charlotte Brasch-Andersen, Joan P. Jørgensen, Helen Cox, Antonio Novelli, Christina R. Fagerberg
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ptosis, business.industry, Learning disability, medicine, medicine.symptom, Microdeletion syndrome, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2bd52a57cc962a0422db22797703ef24
https://doi.org/10.1111/cge.13739/v2/response1 -
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المؤلفون: Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener
المصدر: American Journal of Human Genetics, 103, 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, 103, 5, pp. 666-678
American journal of human genetics, vol 103, iss 5مصطلحات موضوعية: Male, 0301 basic medicine, Movement disorders, Task Force for Neonatal Genomics, Contracture/genetics, Neurodegenerative, Bioinformatics, Neurodevelopmental Disorders/genetics, Infantile, Medical and Health Sciences, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Epilepsy/genetics, Spasms, Epilepsy, Spasms, Infantile/genetics, 0302 clinical medicine, R-Type, 2.1 Biological and endogenous factors, Megalencephaly, Aetiology, Child, Cation Transport Proteins, Genetics (clinical), Pediatric, Genetics & Heredity, Arthrogryposis, 0303 health sciences, Voltage-dependent calcium channel, Epileptic encephalopathy, Deciphering Developmental Disorders Study, Biological Sciences, Hypotonia, 3. Good health, CACNA1E, Genetic Variation/genetics, Child, Preschool, Neurological, Female, Megalencephaly/genetics, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Contracture, Adolescent, Dyskinesias/genetics, Biology, Article, arthrogryposis, 03 medical and health sciences, Genetics, medicine, Humans, Preschool, Calcium Channels, R-Type/genetics, 030304 developmental biology, Muscle contracture, Dyskinesias, business.industry, Calcium channel, Cation Transport Proteins/genetics, Neurosciences, Macrocephaly, Genetic Variation, Correction, Infant, medicine.disease, Human genetics, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, ion channel, calcium channel, Calcium Channels, business, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf