Kết quả tìm kiếm - Marie‐France Portnoï
- Đang hiển thị 1 - 6 kết quả của 6
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Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure Bằng Azzedine Aboura, Claire Dupas, Gérard Tachdjian, Marie‐France Portnoï, Nathalie Bourcigaux, Didier Dewailly, René Frydman, Bart C.J.M. Fauser, N. Ronci-Chaix, Bruno Donadille, Philippe Bouchard, Sophie Christin‐Maître
Được phát hành 2009Artigo -
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Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome Bằng Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen
Được phát hành 2007Artigo -
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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Bằng Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy
Được phát hành 2015Artigo -
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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies Bằng Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Selma F. Witchel, Andrew Duncan, Caroline Eozénou, Joëlle Bignon-Topalovic, Svetlana A. Yatsenko, Aleksandar Rajkovic, Miguel Reyes‐Múgica, Kristian Almstrup, Leila Fusée, Yogesh Srivastava, Sandra Chantot‐Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Célia Ravel, Sophie Christin‐Maître, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H. Charreau, Liliana Daín, Violeta A. Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth–Bolard, Stuart A. MacGowan, W.H. Irwin McLean, Étienne Patin, Ewa Rajpert‐De Meyts, Ralf Jauch, John C. Achermann, Jean‐Pierre Siffroi, Ken McElreavey, Anu Bashamboo
Được phát hành 2018Artigo -
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Bằng Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville
Được phát hành 2019Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Chromosome
Genome
Comparative genomic hybridization
Copy-number variation
Internal medicine
Karyotype
Medicine
Mutation
Phenotype
Pregnancy
Bone marrow transplantation
Breakpoint
Chromosomal rearrangement
Chromosomal translocation
Chronic myelogenous leukemia
Computational biology
Copy number analysis
Cord blood
Cytogenetics
DNA sequencing
Disorders of sex development
Endocrinology
Environmental health
Fetus
Gene duplication
Gene rearrangement
Human genetics