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1Academic Journal
Authors: Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Source: HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Subject Terms: Ferroportin disease, SLC40A1-related hemochromatosis, MFS transporters, Hepcidin, Pathogenicity of missense variants, Genetics, QH426-470
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000757; https://doaj.org/toc/2666-2477
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2Academic Journal
Authors: Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
File Description: electronic resource
Relation: https://doaj.org/toc/2328-9503
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3Academic Journal
Authors: Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
Source: BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
Subject Terms: Branch point, Prediction, RNA, Benchmark, HSF, SVM-BPfinder, Biotechnology, TP248.13-248.65, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1471-2164
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4Academic Journal
Authors: LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit
Source: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1681-1695 (2019)
Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
File Description: electronic resource
Relation: https://doaj.org/toc/2328-9503
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5Academic Journal
Authors: Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac
Source: Haematologica, Vol 103, Iss 11 (2018)
Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5
File Description: electronic resource
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6Academic Journal
Authors: Marine Pesson, Alain Volant, Arnaud Uguen, Kilian Trillet, Pierre De La Grange, Marc Aubry, Mélanie Daoulas, Michel Robaszkiewicz, Gérald Le Gac, Alain Morel, Brigitte Simon, Laurent Corcos
Source: PLoS ONE, Vol 9, Iss 2, p e87761 (2014)
File Description: electronic resource
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7Academic Journal
Authors: Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet
Source: PLoS ONE, Vol 8, Iss 12, p e81128 (2013)
File Description: electronic resource
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8Academic Journal
Authors: Gérald Le Gac, Rita Congiu, Isabelle Gourlaouen, Milena Cau, Claude Férec, Maria Antonietta Melis
Source: Haematologica, Vol 95, Iss 4 (2010)
Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5
File Description: electronic resource
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9Academic Journal
Authors: Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec
Source: Advances in Hematology, Vol 2009 (2009)
Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5
File Description: electronic resource
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10Academic Journal
Authors: Chandran Ka, Gérald Le Gac, Emilie Letocart, Isabelle Gourlaouen, Brigitte Martin, Claude Férec
Source: Haematologica, Vol 92, Iss 9 (2007)
Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5
File Description: electronic resource
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11Academic Journal
Authors: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen
Source: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
Subject Terms: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1479-7364
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12Academic Journal
Authors: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
Source: Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)
Subject Terms: ACMG guidelines, Allele frequency threshold, Allelic heterogeneity, Disease prevalence, Exome sequencing, Genetic heterogeneity, Medicine, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/1479-7364
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13Academic Journal
Authors: Jin-Huan Lin, Hao Wu, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Gerald Le Gac, David N. Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen
Source: Frontiers in Genetics, Vol 12 (2021)
Subject Terms: aberrant transcript, full-length gene splicing assay, genetic variant, minigene splicing assay, splice site, SpliceAI, Genetics, QH426-470
File Description: electronic resource
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14Academic Journal
Authors: Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L’Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec
Source: BMC Pregnancy and Childbirth, Vol 18, Iss 1, Pp 1-8 (2018)
Subject Terms: Genetic hemochromatosis, Iron overload, Phenotype, Pregnancy, Gynecology and obstetrics, RG1-991
File Description: electronic resource
Relation: http://link.springer.com/article/10.1186/s12884-018-1684-6; https://doaj.org/toc/1471-2393
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15Academic Journal
Authors: Valerie Ugo, Sylvie Tondeur, Marie-Laurence Menot, Nadine Bonnin, Gerald Le Gac, Carole Tonetti, Veronique Mansat-De Mas, Lydie Lecucq, Jean-Jacques Kiladjian, Christine Chomienne, Christine Dosquet, Nathalie Parquet, Luc Darnige, Marc Porneuf, Martine Escoffre-Barbe, Stephane Giraudier, Eric Delabesse, Bruno Cassinat, French Intergroup of Myeloproliferative disorders
Source: PLoS ONE, Vol 5, Iss 1, p e8893 (2010)
File Description: electronic resource