Zoekresultaten - Deardorff, Matthew A.

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst