Arama Sonuçları - Deardorff, Matthew A.

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

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

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

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

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