检索结果 - Matthew A. Deardorff

Refine Results
  1. 1
    Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?

    Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen? 由 Jennifer M. Kalish, Matthew A. Deardorff

    出版 2016
    获取全文
    Carta
    加到收藏夹
    Saved in:
  2. 2
    Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin

    Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin 由 Chester M. Hedgepeth, Matthew A. Deardorff, Kathleen Rankin, Peter S. Klein

    出版 1999
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit

    Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit 由 Tara Wenger, Jeffrey S. Gerdes, Katherine S. Taub, Daniel T. Swarr, Matthew A. Deardorff, Nicholas S. Abend

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Regulation of eye development by frizzled signaling in <i>Xenopus</i>

    Regulation of eye development by frizzled signaling in <i>Xenopus</i> 由 Jennifer T. Rasmussen, Matthew A. Deardorff, Change Tan, Mahendra S. Rao, Peter S. Klein, Monica L. Vetter

    出版 2001
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Neutral mitochondrial heteroplasmy and the influence of aging

    Neutral mitochondrial heteroplasmy and the influence of aging 由 Neal Sondheimer, Catherine Glatz, Jack E. Tirone, Matthew A. Deardorff, Abba Μ. Krieger, Hákon Hákonarson

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders

    Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders 由 Christophe Decroos, Christine M. Bowman, J. Moser, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis

    Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis 由 Ute Rothbächer, Micheline N. Laurent, Matthew A. Deardorff, Peter S. Klein, Ken W.Y. Cho, Scott E. Fraser

    出版 2000
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders

    Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders 由 Christophe Decroos, Nicolas Christianson, Laura E. Gullett, Christine M. Bowman, Karen E. Christianson, Matthew A. Deardorff, D.W. Christianson

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey 由 Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pié, Victoria Mok Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

    出版 2010
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

    Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies 由 Dinah Clark, Ilana Sherer, Matthew A. Deardorff, Janice L. B. Byrne, Kathleen M. Loomes, Małgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz

    出版 2012
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  11. 11
    Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

    Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis 由 Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz, Ian D. Krantz

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis 由 Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Līvija Medne, Linda M. Ernst, Elaine H. Zackai, Matthew A. Deardorff, Ian D. Krantz, Hákon Hákonarson, Nancy B. Spinner

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum 由 Qiaoli Li, Jill L. Brodsky, Laura K. Conlin, Bruce Pawel, Andrew C. Glatz, Rachel I. Gafni, Leon J. Schurgers, Jouni Uitto, Hákon Hákonarson, Matthew A. Deardorff, Michael A. Levine

    出版 2013
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

    Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature 由 Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette A. Gillis, Antonie D. Kline, Linda M. Ernst, Kathleen M. Loomes, Ian D. Krantz, Laird G. Jackson

    出版 2011
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  15. 15
    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome 由 Aiko Iwata‐Otsubo, Alyssa L. Rippert, Jorune Balciuniene, Sarah K. Fiordaliso, Robert Chen, Preetha Markose, Cara Skraban, Christopher Gray, Elaine H. Zackai, Holly Dubbs, Matthew A. Deardorff, Laura K. Conlin, Kosuke Izumi

    出版 2025
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells 由 Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A. Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B. Spinner, Hugo Vega, Laird G. Jackson, Katsuhiko Shirahige, Ian D. Krantz

    出版 2009
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome 由 Jennifer M. Kalish, Kara E. Boodhansingh, Tricia R. Bhatti, Arupa Ganguly, Laura K. Conlin, Susan Becker, Stephanie Givler, Lindsey Mighion, Andrew Palladino, N. Scott Adzick, Diva D. De León, Charles A. Stanley, Matthew A. Deardorff

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

    Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management 由 Kelly A. Duffy, Christopher M. Cielo︎, Jennifer L. Cohen, Christina X Gonzalez-Gandolfi, Jessica R. Griff, Evan R. Hathaway, Jonida Kupa, Jesse A. Taylor, Kathleen H. Wang, Arupa Ganguly, Matthew A. Deardorff, Jennifer M. Kalish

    出版 2019
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  19. 19
    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases 由 Samantha A. Schrier, Joann Bodurtha, Barbara K. Burton, Albert E. Chudley, Mary Anne D. Chiong, M D'Avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez‐Lara, Stavit A. Shalev, Matthew A. Deardorff

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>

    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> 由 Rebecca C. Ahrens‐Nicklas, George K. E. Umanah, Neal Sondheimer, Matthew A. Deardorff, Alisha Wilkens, Laura K. Conlin, Avni Santani, Addie I. Nesbitt, Jane Juulsola, Erica Ma, Ted M. Dawson, Valina L. Dawson, Eric D. Marsh

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: