Canlyniadau Chwilio - Ian D. Krantz

Mireinio'r Canlyniadau
  1. 1
    Cohesin and Human Disease

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

    Cyhoeddwyd 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 gan Dale Dorsett, Ian D. Krantz

    Cyhoeddwyd 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 gan Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    Cyhoeddwyd 2009
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  4. 4
    Alagille syndrome.

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

    Cyhoeddwyd 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 gan Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

    Cyhoeddwyd 2013
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  6. 6
    Rare Variants Create Synthetic Genome-Wide Associations

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

    Cyhoeddwyd 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 gan Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige

    Cyhoeddwyd 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 gan Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hákon Hákonarson

    Cyhoeddwyd 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 gan Stefan Rentas, Komal S. Rathi, Maninder Kaur, Pichai Raman, Ian D. Krantz, Mahdi Sarmady, Ahmad Abou Tayoun

    Cyhoeddwyd 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 gan Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli

    Cyhoeddwyd 1999
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  11. 11
    Jagged1 mutations in Alagille syndrome

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

    Cyhoeddwyd 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 gan Ian D. Krantz, Raymond P. Colliton, Anna Genin, Elizabeth B. Rand, Linheng Li, David A. Piccoli, Nancy B. Spinner

    Cyhoeddwyd 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 gan Devanshi Mehta, Sarah E. Noon, E Schwartz, Alisha Wilkens, Emma Bedoukian, Irene Scarano, E. Bryan Crenshaw, Ian D. Krantz

    Cyhoeddwyd 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 gan Doff B. McElhinney, Ian D. Krantz, Lynn Bason, David A. Piccoli, Karan M. Emerick, Nancy B. Spinner, Elizabeth Goldmuntz

    Cyhoeddwyd 2002
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  15. 15
    Vascular Anomalies in Alagille Syndrome

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

    Cyhoeddwyd 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 gan Ian D. Krantz, Rosemarie Smith, Ray P. Colliton, Hilary Tinkel, Elaine H. Zackai, David A. Piccoli, Elizabeth Goldmuntz, Nancy B. Spinner

    Cyhoeddwyd 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 gan Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner, Ian D. Krantz

    Cyhoeddwyd 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 gan Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria Maria Rizzo, Ian D. Krantz, Steve Bilodeau, Antonio Musio

    Cyhoeddwyd 2015
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  19. 19
    Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

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

    Cyhoeddwyd 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 gan Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, Athma A. Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

    Cyhoeddwyd 2006
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