-
1دورية أكاديمية
المؤلفون: Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg
المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Medical genomics, Bioinformatics, Neurology, Whole genome sequencing, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
-
2دورية أكاديمية
المؤلفون: Samantha N McNulty, Jose F Tort, Gabriel Rinaldi, Kerstin Fischer, Bruce A Rosa, Pablo Smircich, Santiago Fontenla, Young-Jun Choi, Rahul Tyagi, Kymberlie Hallsworth-Pepin, Victoria H Mann, Lakshmi Kammili, Patricia S Latham, Nicolas Dell'Oca, Fernanda Dominguez, Carlos Carmona, Peter U Fischer, Paul J Brindley, Makedonka Mitreva
المصدر: PLoS Genetics, Vol 13, Iss 1, p e1006537 (2017)
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell’Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg
المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: Lissencephaly, PAFAH1B1, Whole-genome sequencing, Rare disease, Novel mutation, Case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2431