Resultados de procura - Guipponi, Michel

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice por Hanifa, Syazana, Scott, Hamish S, Crewther, Pauline, Guipponi, Michel, Tan, Justin

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Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33 por Moulard, Bruno, Guipponi, Michel, Chaigne, Denys, Mouthon, Dominique, Buresi, Catherine, Malafosse, Alain

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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm por De Iaco, Alberto, Santoni, Federico, Vannier, Anne, Guipponi, Michel, Antonarakis, Stylianos, Luban, Jeremy

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MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination por Molinard‐Chenu, Aude, Fluss, Joël, Laurent, Sacha, Laurent, Méryle, Guipponi, Michel, Dayer, Alexandre G.

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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster por Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.

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Next generation diagnostics on cardiomyopathy por Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree por Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

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LARS2-Perrault syndrome: a new case report and literature review por Carminho-Rodrigues, Maria Teresa, Klee, Phillipe, Laurent, Sacha, Guipponi, Michel, Abramowicz, Marc, Cao-van, Hélène, Guinand, Nils, Paoloni-Giacobino, Ariane

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Mice Deficient for the Type II Transmembrane Serine Protease, TMPRSS1/hepsin, Exhibit Profound Hearing Loss por Guipponi, Michel, Tan, Justin, Cannon, Ping Z.F., Donley, Lauren, Crewther, Pauline, Clarke, Maria, Wu, Qingyu, Shepherd, Robert K., Scott, Hamish S.

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A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family por Belhedi, Nejla, Bena, Frédérique, Mrabet, Amel, Guipponi, Michel, Souissi, Chiraz Bouchlaka, Mrabet, Hela Khiari, Elgaaied, Amel Benammar, Malafosse, Alain, Salzmann, Annick

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Chromosome Conformation Capture Uncovers Potential Genome-Wide Interactions between Human Conserved Non-Coding Sequences por Robyr, Daniel, Friedli, Marc, Gehrig, Corinne, Arcangeli, Mélanie, Marin, Marilyn, Guipponi, Michel, Farinelli, Laurent, Barde, Isabelle, Verp, Sonia, Trono, Didier, Antonarakis, Stylianos E.

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A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family por Guipponi, Michel, Masclaux, Frédéric, Sloan-Béna, Frédérique, Di Sanza, Corinne, Özbek, Namik, Peyvandi, Flora, Menegatti, Marzia, Casini, Alessandro, Malbora, Baris, Neerman-Arbez, Marguerite

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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells por Letourneau, Audrey, Cobellis, Gilda, Fort, Alexandre, Santoni, Federico, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Vannier, Anne, Guipponi, Michel, Carninci, Piero, Borel, Christelle, Antonarakis, Stylianos E.

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance por Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 por Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Sailani, M Reza, Dahoun, Sophie, Santoni, Federico A, Gimelli, Stefania, Guipponi, Michel, Pelte, Marie Françoise, Béna, Frédérique, Antonarakis, Stylianos E, Feki, Anis

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Biased Allelic Expression in Human Primary Fibroblast Single Cells por Borel, Christelle, Ferreira, Pedro G., Santoni, Federico, Delaneau, Olivier, Fort, Alexandre, Popadin, Konstantin Y., Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Guipponi, Michel, Padioleau, Ismael, Carninci, Piero, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E.

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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss por Van Heurck, Roxane, Carminho-Rodrigues, Maria Teresa, Ranza, Emmanuelle, Stafuzza, Caterina, Quteineh, Lina, Gehrig, Corinne, Hammar, Eva, Guipponi, Michel, Abramowicz, Marc, Senn, Pascal, Guinand, Nils, Cao-Van, Helene, Paoloni-Giacobino, Ariane

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Extrachromosomal driver mutations in glioblastoma and low grade glioma por Nikolaev, Sergey, Santoni, Federico, Garieri, Marco, Makrythanasis, Periklis, Falconnet, Emilie, Guipponi, Michel, Vannier, Anne, Radovanovic, Ivan, Bena, Frederique, Forestier, Françoise, Schaller, Karl, Dutoit, Valerie, Clement-Schatlo, Virginie, Dietrich, Pierre-Yves, Antonarakis, Stylianos E

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Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing por Fasquelle, Lydie, Scott, Hamish S., Lenoir, Marc, Wang, Jing, Rebillard, Guy, Gaboyard, Sophie, Venteo, Stéphanie, François, Florence, Mausset-Bonnefont, Anne-Laure, Antonarakis, Stylianos E., Neidhart, Elizabeth, Chabbert, Christian, Puel, Jean-Luc, Guipponi, Michel, Delprat, Benjamin

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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins por Sailani, M. Reza, Santoni, Federico A., Letourneau, Audrey, Borel, Christelle, Makrythanasis, Periklis, Hibaoui, Youssef, Popadin, Konstantin, Bonilla, Ximena, Guipponi, Michel, Gehrig, Corinne, Vannier, Anne, Carre-Pigeon, Frederique, Feki, Anis, Nizetic, Dean, Antonarakis, Stylianos E.

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