نتائج البحث - Michel Guipponi

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput حسب Michel Guipponi, Shane Herbert, Min Yen Toh, Karl Poetter, Susan Forrest, Hamish S. Scott

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

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

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

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

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Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 حسب Ferenc B. Sallo, MD, PhD, Chantal Dysli, MD, PhD, Franz Josef Holzer, MD, Emmanuelle Ranza, MD, Michel Guipponi, MD, Stylianos E. Antonarakis, MD, Francis L. Munier, MD, Alan C. Bird, MD, Daniel F. Schorderet, MD, Beatrice Rossillion, MD, Veronika Vaclavik, MD

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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. حسب Maria Gutierrez-Arcelus, Halit Ongen, Tuuli Lappalainen, Stephen B Montgomery, Alfonso Buil, Alisa Yurovsky, Julien Bryois, Ismael Padioleau, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Thomas Giger, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E Antonarakis, Emmanouil T Dermitzakis

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Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation حسب Maria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, Alfonso Buil, Halit Ongen, Alisa Yurovsky, Julien Bryois, Thomas Giger, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Ismael Padioleau, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E Antonarakis, Emmanouil T Dermitzakis

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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. حسب Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef

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Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis. حسب Katherine E Tansey, Michel Guipponi, Nader Perroud, Guido Bondolfi, Enrico Domenici, David Evans, Stephanie K Hall, Joanna Hauser, Neven Henigsberg, Xiaolan Hu, Borut Jerman, Wolfgang Maier, Ole Mors, Michael O'Donovan, Tim J Peters, Anna Placentino, Marcella Rietschel, Daniel Souery, Katherine J Aitchison, Ian Craig, Anne Farmer, Jens R Wendland, Alain Malafosse, Peter Holmans, Glyn Lewis, Cathryn M Lewis, Tine Bryan Stensbøl, Shitij Kapur, Peter McGuffin, Rudolf Uher

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