Výsledky vyhledávání - Talkowski, Michael

20.1 DISSECTING THE FUNCTIONAL CONSEQUENCES OF RECIPROCAL GENOMIC DISORDERS Autor Talkowski, Michael

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Dopamine Genes and Schizophrenia: Case Closed or Evidence Pending? Autor Talkowski, Michael E., Bamne, Mikhil, Mansour, Hader, Nimgaonkar, Vishwajit L.

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Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample Autor Cordeiro, Quirino, Talkowski, Michael, Wood, Joel, Ikenaga, Eliza, Vallada, Homero

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Can RGS4 Polymorphisms Be Viewed as Credible Risk Factors for Schizophrenia? A Critical Review of the Evidence Autor Talkowski, Michael E, Chowdari, KV, Lewis, David A, Nimgaonkar, Vishwajit L

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Mechanisms for Structural Variation in the Human Genome Autor Currall, Benjamin B., Chiang, C., Talkowski, Michael E., Morton, Cynthia C.

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Indexcov: fast coverage quality control for whole-genome sequencing Autor Pedersen, Brent S, Collins, Ryan L, Talkowski, Michael E, Quinlan, Aaron R

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Functional Analysis of Upstream Common Polymorphisms of the Dopamine Transporter Gene Autor Bamne, Mikhil N., Talkowski, Michael E., Chowdari, Kodavali V., Nimgaonkar, Vishwajit L.

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Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans Autor Wang, Chen-Yu, Brand, Harrison, Shaw, Natalie D., Talkowski, Michael E., Lee, Jeannie T.

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Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism Autor Stamou*, Maria, Brand*, Harrison, Lippincott, Margaret Flynn, Wong, Isaac, Plummer, Lacey, Balasubramanian, Ravikumar, Talkowski, Michael, Seminara, Stephanie Beth

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Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing Autor Veres, Adrian, Gosis, Bridget S., Ding, Qiurong, Collins, Ryan, Ragavendran, Ashok, Brand, Harrison, Erdin, Serkan, Talkowski, Michael E., Musunuru, Kiran

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Linkage Disequilibrium Patterns and Functional Analysis of RGS4 Polymorphisms in Relation to Schizophrenia Autor Chowdari, Kodavali V., Bamne, Mikhil, Wood, Joel, Talkowski, Michael E., Mirnics, Karoly, Levitt, Pat, Lewis, David A., Nimgaonkar, Vishwajit L.

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Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia: Focus on the ND5 Gene Autor Bamne, Mikhil N., Talkowski, Michael E., Moraes, Carlos T., Manuck, Stephen B., Ferrell, Robert E., Chowdari, Kodavali V., Nimgaonkar, Vishwajit L.

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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs Autor Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder Autor Bahl, Samira, Chiang, Colby, Beauchamp, Roberta L, Neale, Benjamin M, Daly, Mark J, Gusella, James F, Talkowski, Michael E, Ramesh, Vijaya

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Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiolo... Autor Kuo, Susan S., van der Merwe, Celia, Fu, Jack M., Carey, Caitlin E., Talkowski, Michael E., Bishop, Somer L., Robinson, Elise B.

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RGS4 Polymorphisms Associated With Variability of Cognitive Performance in a Family-Based Schizophrenia Sample Autor Prasad, Konasale M., Almasy, Laura, Gur, Ruben C., Gur, Raquel E., Pogue-Geile, Michael, Chowdari, Kodavali V., Talkowski, Michael E., Nimgaonkar, Vishwajit L.

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An eMERGE Clinical Center at Partners Personalized Medicine Autor Smoller, Jordan W., Karlson, Elizabeth W., Green, Robert C., Kathiresan, Sekar, MacArthur, Daniel G., Talkowski, Michael E., Murphy, Shawn N., Weiss, Scott T.

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Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin Autor Zepeda-Mendoza, Cinthya J., Bardon, Alexandra, Kammin, Tammy, Harris, David J., Cox, Helen, Redin, Claire, Ordulu, Zehra, Talkowski, Michael E., Morton, Cynthia C.

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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism Autor Stamou, Maria I, Brand, Harrison, Wang, Mei, Wong, Isaac, Lippincott, Margaret F, Plummer, Lacey, Crowley, William F, Talkowski, Michael, Seminara, Stephanie, Balasubramanian, Ravikumar

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Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature Autor Ordulu, Zehra, Wong, Kristen E., Currall, Benjamin B., Ivanov, Andrew R., Pereira, Shahrin, Althari, Sara, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.

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