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1دورية أكاديمية
المؤلفون: Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: 10p deletion, array CGH, DeSanto‐Shinawi syndrome, global developmental delay, WAC, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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2دورية أكاديمية
المؤلفون: Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
مصطلحات موضوعية: CREBBP, epigenetics, genotype–phenotype correlation, Rubinstein‐Taybi syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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3دورية أكاديمية
المؤلفون: María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: RSTS, EP300-Rubinstein-Taybi, Broad thumbs, Intellectual disability, EP300-mutations, EP300-RSTS-phenotype, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0548-2Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-021-22627-wTest; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7Test
الإتاحة: https://doi.org/10.1038/s41467-021-22627-wTest
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7Test -
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المؤلفون: Cristina Toledo Gotor, Cristina García Muro, María De Pablo de las Heras, Sara Pasamón García, Myriam Salvá Artega, Alberto García Oguiza
المصدر: Pediatría (Asunción), Volume: 50, Issue: 1, Pages: 64-71, Published: APR 2023
مصطلحات موضوعية: trastorno del neurodesarrollo, agenesia de cuerpo calloso, Aicardi syndrome, Síndrome de Aicardi, General Engineering, lagunas coriorretinianas, chorioretinal lacunae, agenesis of the corpus callosum, neurodevelopmental disorder, espasmos infantiles, infantile spasms
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c80a46dec4b221387c8c4707bfd494Test
http://scielo.iics.una.py/scielo.php?script=sci_arttext&pid=S1683-98032023000100064&lng=en&tlng=enTest -
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المؤلفون: Inmaculada García Jiménez, Carmen Campos Calleja, José Luis Peña Segura, Juan Ramón García Mata, Antonio Vázquez, Raquel Pérez Delgado, Ana Soria Marzo, Alberto García Oguiza, Javier López Pisón, Miguel Lafuente Hidalgo
المصدر: Revista de Calidad Asistencial. 23:194-196
مصطلحات موضوعية: Health Policy, media_common.quotation_subject, General Medicine, Art, Humanities, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d6cf3a815b343ead77976e21d8e9a734Test
https://doi.org/10.1016/s1134-282xTest(08)72133-x -
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المؤلفون: Raquel, Pérez Delgado, Ana, Soria Marzo, Inmaculada, García Jiménez, Carmen, Campos Calleja, Juan Ramón, García Mata, Miguel, Lafuente Hidalgo, Alberto, García Oguiza, Javier, López Pisón, José, Luis Peña Segura, Antonio, Baldellou Vázquez
المصدر: Revista de calidad asistencial : organo de la Sociedad Espanola de Calidad Asistencial. 23(4)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5f5b71db5b6fbdcd001e85e4ed00d134Test
https://pubmed.ncbi.nlm.nih.gov/23040192Test
النص الكامل