Risultati della ricerca - Ian D. Krantz

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  1. 1
    Cohesin and Human Disease

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

    Pubblicazione 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 di Dale Dorsett, Ian D. Krantz

    Pubblicazione 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 di Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    Pubblicazione 2009
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  4. 4
    Alagille syndrome.

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

    Pubblicazione 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 di Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

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

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

    Pubblicazione 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 di Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige

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

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

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

    Pubblicazione 1999
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  11. 11
    Jagged1 mutations in Alagille syndrome

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

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

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

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

    Pubblicazione 2002
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  15. 15
    Vascular Anomalies in Alagille Syndrome

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

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

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

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

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

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

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

    Pubblicazione 2006
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