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1دورية أكاديمية
المؤلفون: Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
المصدر: HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
مصطلحات موضوعية: pediatric genetics, exome sequencing, gene disease discovery, dominant negative, pediatric neurology, anti-sense, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099 -
3دورية أكاديمية
المؤلفون: Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Patient registry, Genotype–phenotype association, Rare neurological diseases, Movement Disorder, Epilepsy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4
المؤلفون: Xilma R, Ortiz-González, Sriram, Venneti, Jaclyn A, Biegel, Lucy B, Rorke-Adams, Brenda E, Porter
المصدر: Epilepsia. 52(9)
مصطلحات موضوعية: Malformations of Cortical Development, Brain Neoplasms, Phosphopyruvate Hydratase, Glial Fibrillary Acidic Protein, Humans, Infant, Female, Magnetic Resonance Imaging, Ganglioglioma
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5دورية أكاديمية
المؤلفون: C. Dirk Keene, Xilma R. Ortiz-Gonzalez, Yuehua Jiang, David A. Largaespada, Catherine M. Verfaillie, Walter C. Low P.H.D
المصدر: Cell Transplantation, Vol 12 (2003)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource