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المؤلفون: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg
المصدر: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instnameمصطلحات موضوعية: DNA methylation signature, Kabuki syndrome, HNRNPK, RNA processing gene, epigenetics, DNA Methylation, Okamoto syndrome, neurodevelopmental disorder, Hematologic Diseases, Chromatin, Epigenesis, Genetic, episignature, Heterogeneous-Nuclear Ribonucleoprotein K, Phenotype, Vestibular Diseases, Face, Intellectual Disability, Genetics, Humans, Au-Kline syndrome, Abnormalities, Multiple, Genetics (clinical)
وصف الملف: Print-Electronic; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
https://lirias.kuleuven.be/handle/20.500.12942/704570 -
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المؤلفون: I, Irene Díez García-Prieto, Sara, Lopez-Martín, Jacobo, Albert, Mar, Jiménez de la Peña, Daniel Martín, Fernández-Mayoralas, Beatriz, Calleja-Pérez, María Teresa, Gómez Fernández, Sara, Álvarez, Taina, Pihlajaniemi, Valerio, Izzi, Alberto, Fernández-Jaén
مصطلحات موضوعية: Male, Retinal Degeneration, arcuate, Retinal Detachment, autism, Neuroimaging, Collagen Type XVIII, Endostatins, developmental delay, Arts and Humanities (miscellaneous), Cerebellum, Child, Preschool, COL18A1 gene, Mutation, Humans, Knobloch syndrome, Neurology (clinical), Encephalocele
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1c0b412f64bd88586b4d7b55ef7bc9
http://urn.fi/urn:nbn:fi-fe2022042730802 -
3دورية أكاديمية
المؤلفون: Irene Díez García-Prieto, I, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Gómez Fernández, María Teresa, Álvarez, Sara, Pihlajaniemi, Taina, Izzi, Valerio, Fernández-Jaén, Alberto
المصدر: Neurocase (Taylor & Francis Ltd); Feb2022, Vol. 28 Issue 1, p11-18, 8p
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المؤلفون: Kathryn K. Walder-Christensen, Laura Speltz, Samir Lalani, Yong Hui Jiang, Vann Bennett, Sara Álvarez, Haidun Yan, Rui Yang, Irene Díez García-Prieto, Alberto Fernández-Jaén
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Ankyrins, Conformational change, Action Potentials, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Commentaries, medicine, Missense mutation, Ankyrin, Animals, Humans, Axon Initial Segment, Cells, Cultured, 030304 developmental biology, chemistry.chemical_classification, Mice, Knockout, Neurons, 0303 health sciences, Mutation, Multidisciplinary, Transition (genetics), Biological Sciences, Axon initial segment, Axons, Cell biology, Actin Cytoskeleton, HEK293 Cells, chemistry, Vertebrates, Phosphorylation, Neural development, 030217 neurology & neurosurgery, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cd39908e2aba46f8a6b676489b029e
https://pubmed.ncbi.nlm.nih.gov/31501326