Rezultati pretrage - Claudia Ismania Samogy Costa
- Prikaz rezultata 1 – 5 od 5
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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case od Claudia Ismania Samogy Costa, Elisa Varella‐Branco, Frederico Monfardini, Helen Conceição Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Pérez, Naila Cristina Vilaça Lourenço, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Carla Rosenberg, Maria Rita Passos‐Bueno
Izdano 2019Artigo -
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Understanding rare variant contributions to autism: lessons from dystrophin-deficient model od Claudia Ismania Samogy Costa, Luciana Madanelo, Jaqueline Yu Ting Wang, Gabriele da Silva Campos, Ana Cristina De Sanctis Girardi, Marília O. Scliar, Frederico Monfardini, Rita de Cássia M. Pavanello, Vivian R. Cória, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Naila Cristina Vilaça Lourenço, Mayana Zatz, Guilherme Lopes Yamamoto, Elaine Cristina Zachi, Maria Rita Passos‐Bueno
Izdano 2025Artigo -
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Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations od Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, Jack Fu, Tess Levy, Laura Sloofman, Lambertus Klei, Thariana Pichardo, Christine Stevens, Caroline Cusick, Jennifer Ames, Gabriele da Silva Campos, Hilda J Cerros, Roberto Chaskel, Claudia Ismania Samogy Costa, Michael L. Cuccaro, Andrea López, Magdalena Fernández, Eugenio Ferro, Liliana Galeano, Ana Cristina De Sanctis Girardi, Anthony J. Griswold, Luis C. Hernandez, Naila Cristina Vilaça Lourenço, Yunin Ludeña, Diana Núñez, Ryan K. Oyama, Katherine Peña, Isaac N. Pessah, Rebecca J. Schmidt, Holly Morsbach Sweeney, Lizbeth Tolentino, Jaqueline Y. T. Wang, Lilia Albores‐Gallo, Lisa Croen, Carlos Cruz-Fuentes, Irva Hertz‐Picciotto, Alexander Kolevzon, María Claudia Lattig, Liliana Mayo, Maria Rita Passos-Bueno, Margaret A. Pericak‐Vance, Paige M. Siper, Flora Tassone, M. Pilar Trelles, Michael E. Talkowski, Mark J. Daly, Behrang Mahjani, Silvia De Rubeis, Edwin H. Cook, Kathryn Roeder, Catalina Betancur, Bernie Devlin, Joseph D. Buxbaum
Izdano 2025Pré-impressão -
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism od Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon‐Yin Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Simona Cardaropoli, Diana Carli, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia Ismania Samogy Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, Branko Aleksić, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Ãngel Carracedo, Andreas G. Chiocchetti, Hilary Coon, Ryan N. Doan, Montserrat Fernández Prieto, Christine M. Freitag, Sherif Gerges, Stephen J. Guter, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Matthew W. Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W. Scherer, Sabine Schlitt
Izdano 2022Revisão
Alati za pretragu:
Povezani predmeti
Autism
Biology
Genetics
Gene
Medicine
Phenotype
Psychiatry
Astrophysics
Autism spectrum disorder
Coding (social sciences)
Computational biology
Developmental psychology
Duchenne muscular dystrophy
Dystrophin
Evolutionary biology
Genetic architecture
Intellectual disability
Neurodevelopmental disorder
Physics
Psychology
Variation (astronomy)
Bioinformatics
Cohort
Context (archaeology)
Etiology
Exome sequencing
Genetic heterogeneity
Genetic variation
Genotype
Geography