檢索結果 - Ian D. Krantz

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  1. 1
    Cohesin and Human Disease

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

    出版 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 由 Dale Dorsett, Ian D. Krantz

    出版 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 由 Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    出版 2009
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  4. 4
    Alagille syndrome.

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

    出版 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 由 Linda Mannini, Francesco Cucco, Valentina Quarantotti, Ian D. Krantz, Antonio Musio

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

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

    出版 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 由 Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige

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

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

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

    出版 1999
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  11. 11
    Jagged1 mutations in Alagille syndrome

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

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

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

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

    出版 2002
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  15. 15
    Vascular Anomalies in Alagille Syndrome

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

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

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

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

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

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

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

    出版 2006
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