Risultati della ricerca - Deardorff, Matthew A.

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  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? di Kalish, Jennifer M., Deardorff, Matthew A.

    Pubblicazione 2016
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  2. 2
    Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion

    Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion di Deardorff, Matthew A, Sainz, Jesus, Grant, Struan FA

    Pubblicazione 2011
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  3. 3
    MESP1 Mutations in Patients with Congenital Heart Defects

    MESP1 Mutations in Patients with Congenital Heart Defects di Werner, Petra, Latney, Brande, Deardorff, Matthew A., Goldmuntz, Elizabeth

    Pubblicazione 2016
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  4. 4
    Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

    Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders di Deardorff, Matthew A., Porter, Nicholas J., Christianson, David W.

    Pubblicazione 2016
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  5. 5
    The Utility of Alpha-Fetoprotein Screening in Beckwith-Wiedemann Syndrome

    The Utility of Alpha-Fetoprotein Screening in Beckwith-Wiedemann Syndrome di Duffy, Kelly A., Deardorff, Matthew A., Kalish, Jennifer M.

    Pubblicazione 2017
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  6. 6
    Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

    Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen di Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can

    Pubblicazione 2016
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  7. 7
    Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin

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

    Pubblicazione 1999
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  8. 8
    Detailed Assessment of the Ear in Cornelia de Lange Syndrome: Comparison with a Control Sample Using the New Dysmorphology Guidelines

    Detailed Assessment of the Ear in Cornelia de Lange Syndrome: Comparison with a Control Sample Using the New Dysmorphology Guidelines di Hunter, Alasdair GW, Collins, Julianne S, Deardorff, Matthew A, Krantz, Ian D

    Pubblicazione 2009
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  9. 9
    Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

    Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia di Li, Dong, Weber, David R, Deardorff, Matthew A, Hakonarson, Hakon, Levine, Michael A

    Pubblicazione 2015
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  10. 10
    Regulation of eye development by frizzled signaling in Xenopus

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

    Pubblicazione 2001
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  11. 11
    Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome

    Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome di Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary

    Pubblicazione 2012
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  12. 12
    Telemedicine for genetic and neurologic evaluation in the Neonatal Intensive Care Unit

    Telemedicine for genetic and neurologic evaluation in the Neonatal Intensive Care Unit di Wenger, Tara L., Gerdes, Jeffrey, Taub, Katherine, Swarr, Daniel T., Deardorff, Matthew A., Abend, Nicholas S.

    Pubblicazione 2014
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  13. 13
    The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

    The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome di Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.

    Pubblicazione 2010
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  14. 14
    Neutral mitochondrial heteroplasmy and the influence of aging

    Neutral mitochondrial heteroplasmy and the influence of aging di Sondheimer, Neal, Glatz, Catherine E., Tirone, Jack E., Deardorff, Matthew A., Krieger, Abba M., Hakonarson, Hakon

    Pubblicazione 2011
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  15. 15
    Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis

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

    Pubblicazione 2000
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  16. 16
    IMPROVING SURVEILLANCE FOR HYPERAMMONEMIA IN THE NEWBORN

    IMPROVING SURVEILLANCE FOR HYPERAMMONEMIA IN THE NEWBORN di Vergano, Samantha A., Crossette, Jonathan M., Cusick, Frederick C., Desai, Bimal R., Deardorff, Matthew A., Sondheimer, Neal

    Pubblicazione 2013
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  17. 17
    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 di Decroos, Christophe, Bowman, Christine M., Moser, Joe-Ann S., Christianson, Karen E., Deardorff, Matthew A., Christianson, David W.

    Pubblicazione 2014
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  18. 18
    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR di Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke

    Pubblicazione 2016
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  19. 19
    Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

    Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome di Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa

    Pubblicazione 2020
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  20. 20
    ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

    ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis di Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can

    Pubblicazione 2016
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