Torthaí cuardaigh - Deardorff, Matthew A.

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

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

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

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

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