検索結果 - Pevsner, Jonathan

The Contribution of Mosaic Variants to Autism Spectrum Disorder 著者: Freed, Donald, Pevsner, Jonathan

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Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data 著者: Roberson, Elisha D. O., Pevsner, Jonathan

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The biology of the mammalian Krüppel-like family of transcription factors 著者: Dang, Duyen T., Pevsner, Jonathan, Yang, Vincent W.

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Somatic Mosaicism in the Human Genome 著者: Freed, Donald, Stevens, Eric L., Pevsner, Jonathan

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Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays 著者: Scharpf, Robert B., Parmigiani, Giovanni, Pevsner, Jonathan, Ruczinski, Ingo

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Locations and patterns of meiotic recombination in two-generation pedigrees 著者: Ting, Jason C, Roberson, Elisha DO, Currier, Duane G, Pevsner, Jonathan

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Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method 著者: Baugher, Joseph D, Baugher, Benjamin D, Shirley, Matthew D, Pevsner, Jonathan

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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan 著者: Ting, Jason C, Ye, Ying, Thomas, George H, Ruczinski, Ingo, Pevsner, Jonathan

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Syntaxin 7 and VAMP-7 are Soluble N-Ethylmaleimide–sensitive Factor Attachment Protein Receptors Required for Late Endosome–Lysosome and Homotypic Lysosome Fusion in Alveolar Macro... 著者: Ward, Diane McVey, Pevsner, Jonathan, Scullion, Matthew A., Vaughn, Michael, Kaplan, Jerry

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Efficient Array-Based Identification of Novel Cardiac Genes through Differentiation of Mouse ESCs 著者: Miller, Ronald A., Christoforou, Nicolas, Pevsner, Jonathan, McCallion, Andrew S., Gearhart, John D.

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Mosaicism in Human Health and Disease 著者: Thorpe, Jeremy, Osei-Owusu, Ikeoluwa A., Avigdor, Bracha Erlanger, Tupler, Rossella, Pevsner, Jonathan

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Altered Patterns of Cellular Gene Expression in Dermal Microvascular Endothelial Cells Infected with Kaposi's Sarcoma-Associated Herpesvirus 著者: Poole, Lynn J., Yu, Yanxing, Kim, Peter S., Zheng, Qi-Zhi, Pevsner, Jonathan, Hayward, Gary S.

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Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models 著者: Wang, Wenyi, Carvalho, Benilton, Miller, Nathaniel D., Pevsner, Jonathan, Chakravarti, Aravinda, Irizarry, Rafael A.

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Unexpected Relationships and Inbreeding in HapMap Phase III Populations 著者: Stevens, Eric L., Baugher, Joseph D., Shirley, Matthew D., Frelin, Laurence P., Pevsner, Jonathan

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Genetic and genomic stability across lymphoblastoid cell line expansions 著者: Scheinfeldt, Laura B., Hodges, Kelly, Pevsner, Jonathan, Berlin, Dorit, Turan, Nahid, Gerry, Norman P.

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Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees 著者: Stevens, Eric L, Heckenberg, Greg, Baugher, Joseph D, Roberson, Elisha DO, Downey, Thomas J, Pevsner, Jonathan

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Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State 著者: Stevens, Eric L., Heckenberg, Greg, Roberson, Elisha D. O., Baugher, Joseph D., Downey, Thomas J., Pevsner, Jonathan

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A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy 著者: Srivastava, Siddharth, Cohen, Julie, Pevsner, Jonathan, Aradhya, Swaroop, McKnight, Dianalee, Butler, Elizabeth, Johnston, Michael, Fatemi, Ali

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Molecular (SNP) Analyses of Overlapping Hemizygous Deletions of 10q25.3 to 10qter in Four Patients: Evidence for HMX2 and HMX3 as Candidate Genes in Hearing and Vestibular Function 著者: Miller, Nathaniel D., Nance, Melonie A., Wohler, Elizabeth S., Hoover-Fong, Julie E., Lisi, Emily, Thomas, George H., Pevsner, Jonathan

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Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome 著者: Thorpe, Jeremy, Frelin, Laurence P., McCann, Meghan, Pardo, Carlos A., Cohen, Bernard A., Comi, Anne M., Pevsner, Jonathan

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