检索结果 - Stephen Amato
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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM) 由 Janet A. Thomas, Harvey L. Levy, Stephen Amato, Jerry Vockley, Roberto T. Zori, David Dimmock, Cary O. Harding, Deborah A. Bilder, Haoling H. Weng, Joy Olbertz, Markus Meriläinen, Joy Jiang, Kevin Larimore, Soumi Gupta, Zhonghua Gu, Hope Northrup
出版 2018Artigo -
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome 由 Shay Ben‐Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan S. Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau Wai Cheung, James R. Lupski, Ankita Patel
出版 2008Artigo -
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders 由 Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Mohammad M. Qasaymeh, Lorraine Potocki, Sandesh C. Sreenath Nagamani, Luis M. Franco, Amy D. Malphrus, G W Bottenfield, J. Edward Spence, Stephen Amato, Justine Rousseau, Billur Moghaddam, Cindy Skinner, Steven A. Skinner, Saunder Bernes, Nicole L. Armstrong, Marwan Shinawi, Paweł Stankiewicz, Ankita Patel, SW Cheung, James R. Lupski, Arthur L. Beaudet, Trilochan Sahoo
出版 2009Artigo -
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Increased LIS1 expression affects human and mouse brain development 由 Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov, Feng Zhang, Marjorie Withers, Jill V. Hunter, Talia Levy, Vera Shinder, Daniel A. Peiffer, Kevin L. Gunderson, Marjan M. Nezarati, Vern Ann Shotts, Stephen Amato, Sarah Savage, David J. Harris, D Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L. Beaudet, Sau Wai Cheung, Salvador Martı́nez, James R. Lupski, Orly Reiner
出版 2009Artigo -
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NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits 由 Piotr Dittwald, Tomasz Gambin, Przemysław Szafrański, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Rojas, Lindsay Elton, Daryl A. Scott, Christian P. Schaaf, Wilfredo Torres‐Martinez, Abby Stevens, Jill A. Rosenfeld, Satish Agadi, David Francis, Sung-Hae L. Kang, Amy M. Breman, Seema R. Lalani, Carlos A. Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L. Beaudet, Ankita Patel, Chad A. Shaw, James R. Lupski, Anna Gambin, Sau Wai Cheung, Paweł Stankiewicz
出版 2013Artigo -
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size 由 Marwan Shinawi, P. Liu, Sung Hae L. Kang, Joseph Shen, John W. Belmont, Daryl A. Scott, Frank J. Probst, W. J. Craigen, Brett H. Graham, Amber N. Pursley, G Clark, Jinyoung Lee, Monica B. Proud, A. Stocco, Diana L. Rodríguez, Beth A. Kozel, Steven Sparagana, Elizabeth Roeder, Susan G. McGrew, Thaddeus W. Kurczynski, Lesley Allison, Stephen Amato, Sarah Savage, Ankita Patel, Paweł Stankiewicz, Arthur L. Beaudet, S.W. Cheung, James R. Lupski
出版 2009Artigo -
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities 由 Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel
出版 2008Artigo
相关主题
Biology
Gene
Genetics
Medicine
Biochemistry
Comparative genomic hybridization
Gene duplication
Neuroscience
Phenotype
Autism
Cell biology
Chemistry
Copy-number variation
Developmental disorder
Genetic recombination
Genome
Internal medicine
Non-allelic homologous recombination
Psychiatry
Psychology
Recombination
Signal transduction
Speech delay
AMPK
Chromosome
Intellectual disability
Kinase
Macrocephaly
Microcephaly
Pediatrics