Resultados da busca - Ian D. Krantz

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  1. 1
    Cohesin and Human Disease

    Cohesin and Human Disease por Jinglan Liu, Ian D. Krantz

    Publicado em 2008
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  2. 2
    On the Molecular Etiology of Cornelia de Lange Syndrome

    On the Molecular Etiology of Cornelia de Lange Syndrome por Dale Dorsett, Ian D. Krantz

    Publicado em 2008
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  3. 3
    Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease

    Spectrum and consequences of<i>SMC1A</i>mutations: The unexpected involvement of a core component of cohesin in human disease por Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    Publicado em 2009
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  4. 4
    Alagille syndrome.

    Alagille syndrome. por Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

    Publicado em 1997
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  5. 5
    Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

    Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome por Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

    Publicado em 2013
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  6. 6
    Rare Variants Create Synthetic Genome-Wide Associations

    Rare Variants Create Synthetic Genome-Wide Associations por Samuel P. Dickson, Kai Wang, Ian D. Krantz, Hákon Hákonarson, David B. Goldstein

    Publicado em 2010
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  7. 7
    A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes

    A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes por Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige

    Publicado em 2025
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  8. 8
    Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

    Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies por Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hákon Hákonarson

    Publicado em 2010
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  9. 9
    Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing

    Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing por Stefan Rentas, Komal S. Rathi, Maninder Kaur, Pichai Raman, Ian D. Krantz, Mahdi Sarmady, Ahmad Abou Tayoun

    Publicado em 2020
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  10. 10
    Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

    Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis por Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli

    Publicado em 1999
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  11. 11
    Jagged1 mutations in Alagille syndrome

    Jagged1 mutations in Alagille syndrome por Nancy B. Spinner, Raymond P. Colliton, C�cile Crosnier, Ian D. Krantz, Michelle Hadchouel, M Meunier-Rotival

    Publicado em 2000
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  12. 12
    Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

    Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families por Ian D. Krantz, Raymond P. Colliton, Anna Genin, Elizabeth B. Rand, Linheng Li, David A. Piccoli, Nancy B. Spinner

    Publicado em 1998
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  13. 13
    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic por Devanshi Mehta, Sarah E. Noon, E Schwartz, Alisha Wilkens, Emma Bedoukian, Irene Scarano, E. Bryan Crenshaw, Ian D. Krantz

    Publicado em 2016
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  14. 14
    Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a <i>JAG1</i> Mutation and/or Alagille Syndrome

    Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a <i>JAG1</i> Mutation and/or Alagille Syndrome por Doff B. McElhinney, Ian D. Krantz, Lynn Bason, David A. Piccoli, Karan M. Emerick, Nancy B. Spinner, Elizabeth Goldmuntz

    Publicado em 2002
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  15. 15
    Vascular Anomalies in Alagille Syndrome

    Vascular Anomalies in Alagille Syndrome por Binita M. Kamath, Nancy B. Spinner, Karan M. Emerick, Albert E. Chudley, Carol Booth, David A. Piccoli, Ian D. Krantz

    Publicado em 2004
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  16. 16
    Jagged1 mutations in patients ascertained with isolated congenital heart defects

    Jagged1 mutations in patients ascertained with isolated congenital heart defects por Ian D. Krantz, Rosemarie Smith, Ray P. Colliton, Hilary Tinkel, Elaine H. Zackai, David A. Piccoli, Elizabeth Goldmuntz, Nancy B. Spinner

    Publicado em 1999
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  17. 17
    Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

    Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome por Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner, Ian D. Krantz

    Publicado em 2005
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  18. 18
    Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

    Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome por Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria Maria Rizzo, Ian D. Krantz, Steve Bilodeau, Antonio Musio

    Publicado em 2015
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  19. 19
    Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

    Intracranial Vascular Abnormalities in Patients with Alagille Syndrome por Karan M. Emerick, Ian D. Krantz, Binita M. Kamath, Crystal F. Darling, Delilah Burrowes, Nancy B. Spinner, Peter F. Whitington, David A. Piccoli

    Publicado em 2005
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  20. 20
    NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

    NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway por Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, Athma A. Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

    Publicado em 2006
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