检索结果 - Lyonnet, Stanislas 

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions 由 Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude

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Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling 由 Clément-Ziza, Mathieu, Gentien, David, Lyonnet, Stanislas, Thiery, Jean-Paul, Besmond, Claude, Decraene, Charles

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Deletion of Pten in the mouse enteric nervous system induces ganglioneuromatosis and mimics intestinal pseudoobstruction 由 Puig, Isabel, Champeval, Delphine, De Santa Barbara, Pascal, Jaubert, Francis, Lyonnet, Stanislas, Larue, Lionel

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Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia 由 Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz

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Understanding the Basis of Auriculocondylar Syndrome: Insights From Human and Mouse Genetic Studies 由 Clouthier, David E., Passos Bueno, Maria Rita, Tavares, Andre L.P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Diagnosis support systems for rare diseases: a scoping review 由 Faviez, Carole, Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Knebelmann, Bertrand, Salomon, Rémi, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita

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Nuclear Outsourcing of RNA Interference Components to Human Mitochondria 由 Bandiera, Simonetta, Rüberg, Silvia, Girard, Muriel, Cagnard, Nicolas, Hanein, Sylvain, Chrétien, Dominique, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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INTERACTION BETWEEN A CHROMOSOME 10 RET ENHANCER AND CHROMOSOME 21 IN THE DOWN SYNDROME-HIRSCHSPRUNG DISEASE ASSOCIATION 由 Arnold, Stacey, Pelet, Anna, Amiel, Jeanne, Borrego, Salud, Hofstra, Robert, Tam, Paul, Ceccherini, Isabella, Lyonnet, Stanislas, Sherman, Stephanie, Chakravarti, Aravinda

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions 由 Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation 由 Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.

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Nasal speech in patients with 12q15 microdeletions 由 Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome 由 Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence

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Human neural crest cells display molecular and phenotypic hallmarks of stem cells 由 Thomas, Sophie, Thomas, Marie, Wincker, Patrick, Babarit, Candice, Xu, Puting, Speer, Marcy C., Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Etchevers, Heather C.

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Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia 由 Bandiera, Simonetta, Cartault, François, Jannot, Anne-Sophie, Hatem, Elie, Girard, Muriel, Rifai, Laila, Loiseau, Clemence, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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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 由 Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda

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Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France 由 Rey, Françoise, Berthelon, Monique, Caillaud, Catherine, Lyonnet, Stanislas, Abadie, Véronique, Blandin-Savoja, Félicienne, Feingold, Josué, Saudubray, Jean-Marie, Frézal, Jean, Munnich, Arnold, Rey, Jean

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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... 由 Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence

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Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis 由 Chen, Xiaoyi, Faviez, Carole, Vincent, Marc, Briseño-Roa, Luis, Faour, Hassan, Annereau, Jean-Philippe, Lyonnet, Stanislas, Zaidan, Mohamad, Saunier, Sophie, Garcelon, Nicolas, Burgun, Anita

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Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients 由 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

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study 由 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

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