Ngā hua rapu kaituhi

1

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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2

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

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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3

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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4

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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5

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

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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6

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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7

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

I whakaputaina 1999

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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8

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

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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9

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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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10

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

I whakaputaina 2001

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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11

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

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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12

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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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13

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

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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14

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

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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15

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

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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16

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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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17

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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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18

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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19

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

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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20

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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
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Ngā hua rapu - Deardorff, Matthew A.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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