يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Irene Díez García-Prieto"', وقت الاستعلام: 0.79s تنقيح النتائج
  1. 1
    An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    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
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    مصطلحات 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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  2. 2
    Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies:a novel case report and literature review of neuroimaging findings

    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

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  3. 3
    دورية أكاديمية
    Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.

    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

    PDF full text from Publisher Full Text Finder
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  4. 4
    Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly

    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

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