Kết quả tìm kiếm - Lyonnet, Stanislas
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Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions Bằng Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude
Được phát hành 2008Text -
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Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia Bằng Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz
Được phát hành 2015Text -
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Nuclear Outsourcing of RNA Interference Components to Human Mitochondria Bằng Bandiera, Simonetta, Rüberg, Silvia, Girard, Muriel, Cagnard, Nicolas, Hanein, Sylvain, Chrétien, Dominique, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Được phát hành 2011Text -
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INTERACTION BETWEEN A CHROMOSOME 10 RET ENHANCER AND CHROMOSOME 21 IN THE DOWN SYNDROME-HIRSCHSPRUNG DISEASE ASSOCIATION Bằng Arnold, Stacey, Pelet, Anna, Amiel, Jeanne, Borrego, Salud, Hofstra, Robert, Tam, Paul, Ceccherini, Isabella, Lyonnet, Stanislas, Sherman, Stephanie, Chakravarti, Aravinda
Được phát hành 2009Text -
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions Bằng Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Được phát hành 2011Text -
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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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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome Bằng Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence
Được phát hành 2004Text -
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Human neural crest cells display molecular and phenotypic hallmarks of stem cells Bằng Thomas, Sophie, Thomas, Marie, Wincker, Patrick, Babarit, Candice, Xu, Puting, Speer, Marcy C., Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Etchevers, Heather C.
Được phát hành 2008Text -
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Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia Bằng Bandiera, Simonetta, Cartault, François, Jannot, Anne-Sophie, Hatem, Elie, Girard, Muriel, Rifai, Laila, Loiseau, Clemence, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Được phát hành 2013Text -
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A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus Bằng Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda
Được phát hành 2000Text -
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Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France Bằng Rey, Françoise, Berthelon, Monique, Caillaud, Catherine, Lyonnet, Stanislas, Abadie, Véronique, Blandin-Savoja, Félicienne, Feingold, Josué, Saudubray, Jean-Marie, Frézal, Jean, Munnich, Arnold, Rey, Jean
Được phát hành 1988Text -
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Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... Bằng Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Được phát hành 2007Text -
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Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis Bằng Chen, Xiaoyi, Faviez, Carole, Vincent, Marc, Briseño-Roa, Luis, Faour, Hassan, Annereau, Jean-Philippe, Lyonnet, Stanislas, Zaidan, Mohamad, Saunier, Sophie, Garcelon, Nicolas, Burgun, Anita
Được phát hành 2022Text -
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Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients Bằng Abadie, Véronique, Hamiaux, Priscilla, Ragot, Stéphanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Vaivre-Douret, Laurence
Được phát hành 2020Text -
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study Bằng Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Được phát hành 2014Text