Resultados de procura - Lyonnet, Stanislas 

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus por Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso