Resultats de la cerca - Ian D. Krantz

Refinar resultats
  1. 1
    Cohesin and Human Disease

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

    Publicat 2008
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  2. 2
    On the Molecular Etiology of Cornelia de Lange Syndrome

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

    Publicat 2008
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  4. 4
    Alagille syndrome.

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

    Publicat 1997
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  5. 5
    Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

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

    Publicat 2013
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  6. 6
    Rare Variants Create Synthetic Genome-Wide Associations

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

    Publicat 2010
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  7. 7
    A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes

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

    Publicat 2025
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hákon Hákonarson

    Publicat 2010
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Stefan Rentas, Komal S. Rathi, Maninder Kaur, Pichai Raman, Ian D. Krantz, Mahdi Sarmady, Ahmad Abou Tayoun

    Publicat 2020
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli

    Publicat 1999
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  11. 11
    Jagged1 mutations in Alagille syndrome

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

    Publicat 2000
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  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 per Ian D. Krantz, Raymond P. Colliton, Anna Genin, Elizabeth B. Rand, Linheng Li, David A. Piccoli, Nancy B. Spinner

    Publicat 1998
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Devanshi Mehta, Sarah E. Noon, E Schwartz, Alisha Wilkens, Emma Bedoukian, Irene Scarano, E. Bryan Crenshaw, Ian D. Krantz

    Publicat 2016
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Doff B. McElhinney, Ian D. Krantz, Lynn Bason, David A. Piccoli, Karan M. Emerick, Nancy B. Spinner, Elizabeth Goldmuntz

    Publicat 2002
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  15. 15
    Vascular Anomalies in Alagille Syndrome

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

    Publicat 2004
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  16. 16
    Jagged1 mutations in patients ascertained with isolated congenital heart defects

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

    Publicat 1999
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

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

    Publicat 2005
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Linda Mannini, Fabien C. Lamaze, Francesco Cucco, Clelia Amato, Valentina Quarantotti, Ilaria Maria Rizzo, Ian D. Krantz, Steve Bilodeau, Antonio Musio

    Publicat 2015
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  19. 19
    Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

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

    Publicat 2005
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, Athma A. Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

    Publicat 2006
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: