Resultados da pesquisa - Deardorff, Matthew A.

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

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

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

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

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