Hasil Pencarian - Nancy B Spinner

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  1. 1
    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood oleh Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger

    Diterbitkan 2013-01-01
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  2. 2
    Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

    Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution oleh Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C. Dulik, Cara M. Skraban, Nancy B. Spinner

    Diterbitkan 2020-07-01
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  3. 3
    Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

    Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. oleh Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz

    Diterbitkan 2014-01-01
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  4. 4
    Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

    Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools oleh Ernest Keefer-Jacques, Nicolette Valente, Anastasia M. Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M. Loomes, Nancy B. Spinner, Melissa A. Gilbert

    Diterbitkan 2024-10-01
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  5. 5
    CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

    CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. oleh Sohela Shah, Laura K Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A S Knisely, Michael T Mennuti, Randolph P Matthews, Nancy B Spinner, Laura N Bull

    Diterbitkan 2013-01-01
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  6. 6
    Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene

    Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene oleh Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgärtel, Melissa A. Gilbert, Nancy B. Spinner, Catherine Chen, Wei Zheng

    Diterbitkan 2024-06-01
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  7. 7
    Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

    Transcriptional dysregulation in NIPBL and cohesin mutant human cells. oleh Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz

    Diterbitkan 2009-05-01
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  8. 8
    A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

    A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. oleh Ying Chen, Melissa A Gilbert, Christopher M Grochowski, Deborah McEldrew, Jessica Llewellyn, Orith Waisbourd-Zinman, Hakon Hakonarson, Joan E Bailey-Wilson, Pierre Russo, Rebecca G Wells, Kathleen M Loomes, Nancy B Spinner, Marcella Devoto

    Diterbitkan 2018-08-01
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  9. 9
    THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeSummary

    THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeSummary oleh Ellen A. Tsai, Melissa A. Gilbert, Christopher M. Grochowski, Lara A. Underkoffler, He Meng, Xiaojie Zhang, Michael M. Wang, Hailu Shitaye, Kurt D. Hankenson, David Piccoli, Henry Lin, Binita M. Kamath, Marcella Devoto, Nancy B. Spinner, Kathleen M. Loomes

    Diterbitkan 2016-09-01
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  10. 10
    Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

    Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study oleh Binita M. Kamath, Wen Ye, Nathan P. Goodrich, Kathleen M. Loomes, Rene Romero, James E. Heubi, Daniel H. Leung, Nancy B. Spinner, David A. Piccoli, Estella M. Alonso, Stephen L. Guthery, Saul J. Karpen, Cara L. Mack, Jean P. Molleston, Karen F. Murray, Philip Rosenthal, James E. Squires, Jeffrey Teckman, Kasper S. Wang, Richard Thompson, John C. Magee, Ronald J. Sokol, for the Childhood Liver Disease Research Network (ChiLDReN)

    Diterbitkan 2020-03-01
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