المؤلفون: Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado

المصدر: Genes; Volume 14; Issue 4; Pages: 820

مصطلحات موضوعية: autistic spectrum disorder, copy number variations, microarray, tertiary hospital

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14040820Test

الإتاحة: https://doi.org/10.3390/genes14040820Test

المؤلفون: Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn

المصدر: Genes; Volume 14; Issue 1; Pages: 169

مصطلحات موضوعية: copy number variations (CNVs), neurodevelopmental psychiatric disorders (NPDs), 22q11.2 deletion syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14010169Test

الإتاحة: https://doi.org/10.3390/genes14010169Test

المؤلفون: Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn

المصدر: Genes; Volume 14; Issue 1; Pages: 160

مصطلحات موضوعية: prenatal ultrasound, 22q11.2 deletion syndrome, noninvasive prenatal screening, preimplantation genetic testing, fetal cardiac anomaly

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14010160Test

الإتاحة: https://doi.org/10.3390/genes14010160Test

المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank Kaiser, Luis Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina

المصدر: Genes; Volume 12; Issue 5; Pages: 738

مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050738Test

الإتاحة: https://doi.org/10.3390/genes12050738Test

المؤلفون: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin

المصدر: Genes; Volume 12; Issue 5; Pages: 707

مصطلحات موضوعية: PAX6, aniridia, congenital cataracts, nystagmus

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050707Test

الإتاحة: https://doi.org/10.3390/genes12050707Test