Ngā hua rapu - Bru Cormand
- E whakaatu ana i te 1 - 20 hua o te 61
- Haere ki te Whārangi Whai Ake
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Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping mā Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloğlu, Albert de la Chapelle, Anna‐Elina Lehesjoki
I whakaputaina 1999Artigo -
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Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes mā Ester Cuenca-León, Roser Corominas, Noèlia Fernàndez‐Castillo, V. Volpini, Mireia del Toro, Manuel G. Roig, Alfons Macaya, Bru Cormand
I whakaputaina 2008Artigo -
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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. mā Amparo Chabás, Bru Cormand, Daniel Grinberg, José M. Burguera, Susana Balcells, José Luís Merino, I Maté, José A. Sobrino, Roser Gonzàlez‐Duarte, Lluı̈sa Vilageliu
I whakaputaina 1995Artigo -
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New suggestive genetic loci and biological pathways for attention function in adult attention‐deficit/hyperactivity disorder mā Silvia Alemany, Marta Ribasés, Natàlia Vilor‐Tejedor, Mariona Bustamante, Cristina Sánchez‐Mora, Rosa Bosch, Vanesa Richarte, Bru Cormand, Miguel Casas, Josep Antoni Ramos‐Quiroga, Jordi Sunyer
I whakaputaina 2015Artigo -
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Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations mā Claudio Toma, Bàrbara Torrico, Amaia Hervás, Rafael Valdés‐Mas, Alba Tristán‐Noguero, Vanesa Padillo, Marta Maristany, Marta Morgade Salgado, C. Arenas, Xosé S. Puente, Mónica Bayés, Bru Cormand
I whakaputaina 2013Artigo -
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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia mā Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez‐Castillo, Roser Corominas, Marta Vila‐Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Vı́ctor Volpini, Alfons Macaya, Bru Cormand
I whakaputaina 2017Artigo -
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RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior mā Noèlia Fernàndez‐Castillo, Gabriela Gan, Marjolein M. J. van Donkelaar, Mariliis Vaht, Heike Weber, Wolfgang Retz, Andreas Meyer‐Lindenberg, Barbara Franke, Jaanus Harro, Andreas Reif, Stephen V. Faraone, Bru Cormand
I whakaputaina 2017Revisão -
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Cerebral Folate Deficiency Syndromes in Childhood mā Belén Pérez‐Dueñas, Aída Ormazábal, Claudio Toma, Bàrbara Torrico, Bru Cormand, Mercedes Serrano, Cristina Sierra, Elisa De Grandis, Mercè Pineda Marfà, Àngels García‐Cazorla, Jaime Campistol, Juan M. Pascual, Rafael Artuch
I whakaputaina 2011Artigo -
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Genetic architecture of ADHD and overlap with other psychiatric disorders and cognition-related phenotypes mā Marta Ribasés, Marina Mitjans, C.A. Hartman, María Soler Artigas, Ditte Demontis, Henrik Larsson, Josep Antoni Ramos‐Quiroga, Jonna Kuntsi, Stephen V. Faraone, Børglum Ad, Andreas Reif, Barbara Franke, Bru Cormand
I whakaputaina 2023Revisão -
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Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study mā Marta Ribasés, Josep Antoni Ramos‐Quiroga, Cristina Sánchez‐Mora, Rosa Bosch, Vanesa Richarte, Glòria Palomar, Xavier Gastaminza, Anna Bielsa, Mauricio Arcos‐Burgos, Maximilian Muenke, F. Xavier Castellanos, Bru Cormand, Mónica Bayés, Miguel Casas
I whakaputaina 2010Artigo -
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The genetics of attention deficit/hyperactivity disorder in adults, a review mā Barbara Franke, Stephen V. Faraone, Philip Asherson, Jan K. Buitelaar, Claiton Henrique Dotto Bau, Josep Antoni Ramos‐Quiroga, Eric Mick, Eugênio H. Grevet, Stefan Johansson, Jan Haavik, Klaus‐Peter Lesch, Bru Cormand, Andreas Reif
I whakaputaina 2011Revisão -
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A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype mā Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom, Willem M.R. van den Akker, Sarina G. Kant, William B. Dobyns, Bru Cormand, Sophie Currier, Ben C.J. Hamel, Beril Talim, Haluk Topaloğlu, Han G. Brunner
I whakaputaina 2003Artigo -
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Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan mā Barbara Franke, Giorgia Michelini, Philip Asherson, Tobias Banaschewski, Andrea Bilbow, Jan K. Buitelaar, Bru Cormand, Stephen V. Faraone, Ylva Ginsberg, Jan Haavik, Jonna Kuntsi, Henrik Larsson, Klaus‐Peter Lesch, Josep Antoni Ramos‐Quiroga, János Réthelyi, Marta Ribasés, Andreas Reif
I whakaputaina 2018Revisão -
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing mā Marta de Castro‐Miró, Raúl Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, J Albuquerque e Castro, Marcela Ciccioli, Daniel A. Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J. Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez‐Duarte
I whakaputaina 2016Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Psychology
Medicine
Genotype
Single-nucleotide polymorphism
Psychiatry
Attention deficit hyperactivity disorder
Genome-wide association study
Clinical psychology
Neuroscience
Genetic association
Internal medicine
Phenotype
Genetic architecture
Candidate gene
Computational biology
Cognition
Computer science
Developmental psychology
Environmental health
Genome
Heritability
Migraine
Neurodevelopmental disorder
Population
Quantitative trait locus
Attention deficit
Autism