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Author/Creator Bieth, Eric

1. Alternative Splicing of In‐Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies. Issue 2 (8th November 2012)

Authors:
Hinzpeter, Alexandre; Aissat, Abdel; de Becdelièvre, Alix; Bieth, Eric; Sondo, Elvira; Martin, Natacha; Costes, Bruno; Costa, Catherine; Goossens, Michel; Galietta, Luis J.V.; Girodon, Emmanuelle; Fanen, Pascale
Journal:
Human mutation
Issue:
Volume 34:Issue 2(2013:Feb.)
Page Start:
287
Record Type:
Journal Article
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2. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Issue 4 (1st February 2013)

Authors:
Thauvin-Robinet, Christel; Munck, Anne; Huet, Frédéric; de Becdelièvre, Alix; Jimenez, Clément; Lalau, Guy; Gautier, Elodie; Rollet, Jacques; Flori, Jean; Nové-Josserand, Raphaëlle; Soufir, Jean-Claude; Haloun, Alain; Hubert, Dominique; Houssin, Elise; Bellis, Gil; Rault, Gilles; David, Albert; J...
Other Names:
Bazin A author non-byline.; Blayau M author non-byline.; Bonnefont JP author non-byline.; Bouligand J author non-byline.; Chéry M author non-byline.; Chevalier-Porst F author non-byline.; Costa JM author non-byline.; Coude M author non-byline.; Creveaux I author non-byline.; Dalstein V author non...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 4(2013)
Page Start:
220
Record Type:
Journal Article
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3. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Issue 10 (28th June 2017)

Authors:
Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie‐Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie‐Claire; Reboul, Mari...
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1297
Record Type:
Journal Article
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4. Chest pain in Brugada syndrome: Prevalence, correlations, and prognosis role. Issue 4 (26th February 2020)

Authors:
Sebai, Fatiha; Rollin, Anne; Mondoly, Pierre; Voglimacci‐Stephanopoli, Quentin; Dupin‐Deguine, Delphine; Bieth, Eric; Hocini, Meleze; Monteil, Benjamin; Mandel, Franck; Galinier, Michel; Carrié, Didier; Haïssaguerre, Michel; Sacher, Frederic; Maury, Philippe
Journal:
Pacing and clinical electrophysiology
Issue:
Volume 43:Issue 4(2020)
Page Start:
365
Record Type:
Journal Article
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5. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022)

Authors:
Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
52
Record Type:
Journal Article
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6. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes. Issue 7 (24th May 2013)

Authors:
Alby, Caroline; Bessieres, Bettina; Bieth, Eric; Attie‐Bitach, Tania; Fermont, Laurent; Citony, Isabelle; Razavi, Ferechté; Vekemans, Michel; Escande, Fabienne; Manouvrier, Sylvie; Malan, Valérie; Amiel, Jeanne
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 7(2013:Jul.)
Page Start:
1797
Record Type:
Journal Article
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7. Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies. (14th September 2020)

Authors:
Marty, Mathieu; Bonnaud, Carole; Jones, Natalie; Longy, Michel; Vaysse, Frédéric; Bieth, Eric; Bailleul-Forestier, Isabelle
Other Names:
Yamagata Kenji Academic Editor.
Journal:
Case reports in dentistry
Issue:
Volume 2020(2020)
Page Start:
Record Type:
Journal Article
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8. Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. Issue 9 (8th August 2019)

Authors:
Lerat, Justine; Magdelaine, Corinne; Roux, Anne‐Françoise; Darnaud, Léa; Beauvais‐Dzugan, Hélène; Naud, Steven; Richard, Laurence; Derouault, Paco; Ghorab, Karima; Magy, Laurent; Vallat, Jean‐Michel; Cintas, Pascal; Bieth, Eric; Arne‐Bes, Marie‐Christine; Goizet, Cyril; Espil‐Taris, Caroline; Jou...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 9(2019)
Page Start:
n/a
Record Type:
Journal Article
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9. Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations. Issue 7 (9th April 2014)

Authors:
Hinzpeter, Alexandre; de Becdelièvre, Alix; Bieth, Eric; Gameiro, Christine; Brémont, François; Martin, Natacha; Costes, Bruno; Costa, Catherine; Aissat, Abdel; Lorot, Aurélie; Prulière‐Escabasse, Virginie; Goossens, Michel; Fanen, Pascale; Girodon, Emmanuelle
Journal:
Human mutation
Issue:
Volume 35:Issue 7(2014:Jul.)
Page Start:
805
Record Type:
Journal Article
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