-
1دورية أكاديمية
المؤلفون: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin
المصدر: Genes, Vol 12, Iss 5, p 707 (2021)
وصف الملف: electronic resource
-
2دورية أكاديمية
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
-
3دورية أكاديمية
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
-
4دورية أكاديمية
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
-
5دورية أكاديمية
المؤلفون: Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
العلاقة: https://doi.org/10.1038/s41525-023-00363-yTest; https://doaj.org/toc/2056-7944Test; https://doaj.org/article/8c4a618d8f784a9c9f58db40b2e0cf57Test
الإتاحة: https://doi.org/10.1038/s41525-023-00363-yTest
https://doaj.org/article/8c4a618d8f784a9c9f58db40b2e0cf57Test -
6مؤتمر
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)
الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test -
7دورية أكاديمية
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test
الإتاحة: https://doi.org/10.3389/fgene.2022.652454Test
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test -
8دورية أكاديمية
المؤلفون: Ismael Ejarque Doménech, Purificación Marín Reina, Sixto García-Miñaur Rica, Isabel Chirivella González, María Teresa Martínez Martínez, Ana María García Rodríguez, Sara Álvarez de Andrés, Juan José Tellería Orriols
المصدر: Atención Primaria, Vol 54, Iss 12, Pp 102501- (2022)
مصطلحات موضوعية: Clinical genetics, Primary care, Referral, Medicine (General), R5-920
العلاقة: http://www.sciencedirect.com/science/article/pii/S0212656722002219Test; https://doaj.org/toc/0212-6567Test; https://doaj.org/article/15f91752b2d048a6b77f84c5667041d1Test
الإتاحة: https://doi.org/10.1016/j.aprim.2022.102501Test
https://doaj.org/article/15f91752b2d048a6b77f84c5667041d1Test -
9دورية أكاديمية
المؤلفون: Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, John A. Bernat, Hannah M. Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, André Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J. Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M.C. Schwaibold, Tobias B. Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier
العلاقة: info:eu-repo/grantAgreement/EC/H2020/837547/; https://zenodo.org/record/5510296Test; https://doi.org/10.1093/hmg/ddab265Test; oai:zenodo.org:5510296
-
10دورية أكاديمية
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