检索结果 - Nancy B. Spinner

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  1. 1
    Alagille Syndrome: Genetics and Functional Models

    Alagille Syndrome: Genetics and Functional Models 由 Melissa A. Gilbert, Nancy B. Spinner

    出版 2017
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  2. 2
    Notch signaling in human development and disease

    Notch signaling in human development and disease 由 Andrea Penton, Laura D. Leonard, Nancy B. Spinner

    出版 2012
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  3. 3
    Jagged1 (JAG1): Structure, expression, and disease associations

    Jagged1 (JAG1): Structure, expression, and disease associations 由 Christopher M. Grochowski, Kathleen M. Loomes, Nancy B. Spinner

    出版 2015
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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
    Unique forms of human and mouse nuclear receptor corepressor SMRT

    Unique forms of human and mouse nuclear receptor corepressor SMRT 由 Peter Ordentlich, Michael Downes, Wen Xie, Anna Genin, Nancy B. Spinner, Ronald M. Evans

    出版 1999
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  6. 6
    Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

    Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution 由 Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C. Dulik, Cara Skraban, Nancy B. Spinner

    出版 2020
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  7. 7
    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations 由 Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

    出版 2017
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  8. 8
    Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

    Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders 由 Marian Reiff, Ellen Giarelli, Barbara A. Bernhardt, Ebony Easley, Nancy B. Spinner, Pamela Sankar, Surabhi Mulchandani

    出版 2015
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  9. 9
    The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

    The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21 由 Gerard T. Berry, John Mallee, H. Moo Kwon, Jong S. Rim, Wadia R. Mulla, Maximilian Muenke, Nancy B. Spinner

    出版 1995
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  10. 10
    Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

    Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome 由 Adam J. Kaye, Elizabeth B. Rand, Pedro S Munoz, Nancy B. Spinner, Alan W. Flake, Binita M. Kamath

    出版 2010
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  11. 11
    “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

    “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing 由 Marian Reiff, Barbara A. Bernhardt, Surabhi Mulchandani, Danielle Soucier, Diana Cornell, Reed E. Pyeritz, Nancy B. Spinner

    出版 2012
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  12. 12
    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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  13. 13
    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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  14. 14
    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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  15. 15
    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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  16. 16
    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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  17. 17
    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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  18. 18
    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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  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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