المؤلفون: Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Genetic constraint, Missense variant interpretation, Clinical interpretation, Protein domains, Developmental disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/696f2ae58f374123a9cf5ed1249bfe43

المؤلفون: Josephs, Katherine S.^{Aff1, Aff2}, Roberts, Angharad M.^{Aff1, Aff3}, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J., Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D., Care, Melanie^{Aff8, Aff9}, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C., Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas^{Aff15, Aff16}, Jarinova, Olga^{Aff15, Aff16}, Callewaert, Bert^{Aff17, Aff18}, Peters, Stacey^{Aff19, Aff20}, Lumbers, Tom^{Aff21, Aff22}, Jordan, Elizabeth, Asatryan, Babken^{Aff24, Aff25}, Krishnan, Neesha, Hershberger, Ray E., Chahal, C. Anwar A.^{Aff27, Aff28, Aff29, Aff30}, Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M., Judge, Daniel P., van Tintelen, Peter, Wilde, Arthur^{Aff36, Aff37}, Gollob, Michael, Ingles, Jodie, Ware, James S.^{Aff1, Aff2, Aff39, IDs13073023012468_cor35}

المصدر: Genome Medicine. 15(1)

المؤلفون: Goldberg, Yehuda, Segal, Shir, Hamdi, Liel, Nabat, Hanan, Fainstein, Nina^{Aff1, Aff2}, Mediouni, Efrat, Asis, Yarden, Theotokis, Paschalis, Salamotas, Ilias, Grigoriadis, Nikolaos, Katz, Abram, Ben-Hur, Tamir, Einstein, Ofira^{Aff1, IDs41598023435348_cor13}

المصدر: Scientific Reports. 13(1)

المؤلفون: Paschalis Theotokis

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 1754-1756 (2024)

مصطلحات موضوعية: n/a, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/3/114; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/8a49d969c9b343e5bb11ee2ca1b45d4b

المؤلفون: Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Inherited cardiac conditions, Inheritance, Allelic requirement, Disease mechanism, Gene curation, Genomic variant filtering, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160

المؤلفون: Yehuda Goldberg, Shir Segal, Liel Hamdi, Hanan Nabat, Nina Fainstein, Efrat Mediouni, Yarden Asis, Paschalis Theotokis, Ilias Salamotas, Nikolaos Grigoriadis, Abram Katz, Tamir Ben-Hur, Ofira Einstein

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/98ee30eec7ce4b74bfc688116a1718e1

المؤلفون: Paschalis Theotokis, Lida Zoupi, Marie-Ève Tremblay, Jing-Wei Zhao

المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: myelin, neurodevelopment, neurodegenerative disorders, multiple sclerosis, caloric mimetics, peripheral nerve alterations, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1359184/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/e0cf99e0d40142f8a2cded7870fe709d

المؤلفون: Iasonas Dermitzakis, Paschalis Theotokis, Evangelos Axarloglou, Efthymia Delilampou, Dimosthenis Miliaras, Soultana Meditskou, Maria Eleni Manthou

المصدر: Life, Vol 14, Iss 6, p 662 (2024)

مصطلحات موضوعية: lifestyle, secondary sex ratio, diet, psychological distress, socioeconomics, occupation, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/14/6/662; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/6ddd715aa6c24350b4d4de3bc48117d2

المؤلفون: Eleni Karafoulidou, Evangelia Kesidou, Paschalis Theotokis, Chrystalla Konstantinou, Maria-Konstantina Nella, Iliana Michailidou, Olga Touloumi, Eleni Polyzoidou, Ilias Salamotas, Ofira Einstein, Athanasios Chatzisotiriou, Marina-Kleopatra Boziki, Nikolaos Grigoriadis

المصدر: Cells, Vol 13, Iss 9, p 785 (2024)

مصطلحات موضوعية: spinal muscular atrophy, SMNΔ7, microglia, astrocytes, gut–brain axis, gut–skeletal muscle axis, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/9/785; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/4c422802c6824453b537e57cecbd47d9

المؤلفون: Despoina Chatzi, Stella Aikaterini Kyriakoudi, Iasonas Dermitzakis, Maria Eleni Manthou, Soultana Meditskou, Paschalis Theotokis

المصدر: Journal of Clinical Medicine, Vol 13, Iss 8, p 2223 (2024)

مصطلحات موضوعية: neural crest, neurocristopathies, congenital anomalies, cancers, rare diseases, precision medicine, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/13/8/2223; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/b492a7b58a2b4d609d1f796422d803c8