Kết quả tìm kiếm - Golzio, Christelle
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Genetic Architecture of Reciprocal CNVs Bằng Golzio, Christelle, Katsanis, Nicholas
Được phát hành 2013Text -
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Mitochondrial Copy Number as a Biomarker for Autism? Bằng Golzio, Christelle, Katsanis, Nicholas
Được phát hành 2016Text -
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Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development Bằng Holtzhausen, Alisha, Golzio, Christelle, How, Tam, Lee, Yong-Hun, Schiemann, William P., Katsanis, Nicholas, Blobe, Gerard C.
Được phát hành 2014Text -
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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome Bằng Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.
Được phát hành 2017Text -
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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation Bằng Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.
Được phát hành 2012Text -
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Identification of cis-suppression of human disease mutations by comparative genomics Bằng Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas
Được phát hành 2015Text -
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A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans Bằng Brooks, Susan S., Wall, Alissa L., Golzio, Christelle, Reid, David W., Kondyles, Amalia, Willer, Jason R., Botti, Christina, Nicchitta, Christopher V., Katsanis, Nicholas, Davis, Erica E.
Được phát hành 2014Text -
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV Bằng Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas
Được phát hành 2012Text -
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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs Bằng Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre
Được phát hành 2017Text -
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Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome Bằng Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, Nicholas
Được phát hành 2018Text -
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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 Bằng Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C.
Được phát hành 2007Text -
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Bằng Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.
Được phát hành 2014Text -
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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions Bằng Arbogast, Thomas, Razaz, Parisa, Ellegood, Jacob, McKinstry, Spencer U, Erdin, Serkan, Currall, Benjamin, Aneichyk, Tanya, Lerch, Jason P, Qiu, Lily R, Rodriguiz, Ramona M, Henkelman, R M, Talkowski, Michael E, Wetsel, William C, Golzio, Christelle, Katsanis, Nicholas
Được phát hành 2019Text -
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A dominant vimentin variant causes a rare syndrome with premature aging Bằng Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand
Được phát hành 2020Text -
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant Bằng Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas
Được phát hành 2013Text