Showing 1 - 12 results of 12 for search 'Garcia-Minaur, S', query time: 0.03s
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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. by Garcia-Miñaur, S, Mavrogiannis, L, Rannan-Eliya, S, Hendry, M, Liston, W, Porteous, M, Wilkie, A
Published 2003Journal article -
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Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr by Barroso, E, Pérez-Carrizosa, V, García-Recuero, I, Glucksman, M, Wilkie, A, García-Minaur, S, Heath, K
Published 2011Journal article -
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Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital by 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
Published 2023-03-01
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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients by 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
Published 2019-11-01
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Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research by 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
Published 2023-01-01
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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions by 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
Published 2023-01-01
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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. by Robertson, S, Jenkins, Z, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Haelst, v, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A
Published 2006Journal article -
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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006) by Robertson, S, Jenkins, Z, Morgan, T, Ades, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minaur, S, Grix, A, Green, A, Kalouistian, V, Lewkonia, R, McInnes, B, Haelst, v, Macini, G, Illes, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A, Suri, M
Published 2006Journal article -
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Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review by 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 Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome by Davies, RW, Fiksinski, AM, Breetvelt, EJ, Williams, NM, Hooper, SR, Monfeuga, T, Bassett, AS, Owen, MJ, Gur, RE, Morrow, BE, McDonald-McGinn, DM, Swillen, A, Chow, EWC, van den Bree, M, Emanuel, BS, Vermeesch, JR, van Amelsvoort, T, Arango, C, Armando, M, Campbell, LE, Cubells, JF, Eliez, S, Garcia-Minaur, S, Gothelf, D, Kates, WR, Murphy, KC, Murphy, CM, Murphy, DG, Philip, N, Repetto, GM, Shashi, V, Simon, TJ, Suñer, DH, Vicari, S, Scherer, SW, Bearden, CE, Vorstman, JAS, International 22q11.2 Brain and Behavior Consortium
Published 2020Journal article -
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS by 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, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
Published 2023-07-01
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