Hakutulokset - Deardorff, Matthew A.

Tumor Screening in Beckwith-Wiedemann Syndrome – To Screen or Not to Screen? Tekijä 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 Tekijä Deardorff, Matthew A, Sainz, Jesus, Grant, Struan FA

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MESP1 Mutations in Patients with Congenital Heart Defects Tekijä 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 Tekijä Deardorff, Matthew A., Porter, Nicholas J., Christianson, David W.

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

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Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä 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 Tekijä Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can

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