Resultats de la cerca - Deardorff, Matthew A.

Tumor Screening in Beckwith-Wiedemann Syndrome – To Screen or Not to Screen? per Kalish, Jennifer M., Deardorff, Matthew A.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders per Decroos, Christophe, Bowman, Christine M., Moser, Joe-Ann S., Christianson, Karen E., Deardorff, Matthew A., Christianson, David W.

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

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

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

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