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by Mahlaoui, Nizar and Picard, Capucine and Bach, Perrine and Costes, Laurence and Courteille, Virginie and Ranohavimparany, Anja and Alcaïs, Alexandre and Jais, Jean-Philippe and Fischer, Alain and Bellanné-Chantelot, Christine and Bustamante, Jacinta and Chollet-Martin, Sylvie and Drouet, Christian and Fremeaux-Bacchi, Véronique and Kannengiesser, Caroline and Girardin, Virginie and Lambert, Nathalie and Proulle, Valérie and Rosain, Jérémie and Stasia, Marie José and Lyonnet, Dominique Stoppa and Theodorou, Ioannis and Abou-Chahla, Wadih and Adoue, Daniel and Aladjidi, Nathalie and Amoura, Zahir and Armari-Alla, Corinne and Bader-Meunier, Brigitte and Barlogis, Vincent and Bayart, Sophie and Bertrand, Yves and Blanche, Stéphane and Bodet, Damien and Bonnotte, Bernard and Borie, Raphaël and Boutard, Patrick and Briandet, Claire and Brion, Jean-Paul and Brouard, Jacques and Carausu, Liana and Catherinot, Emilie and Cheikh, Nathalie and Cohen-Beaussant, Sarah and Couderc, Louis-Jean and Cougoul, Pierre and Couillault, Gérard and de Saint Basile, Geneviève and Devoldere, Catherine and Deville, Anne and Dore, Eric and Dulieu, Fabienne and Durieu, Isabelle and Werle, Natacha Entz and Fieschi, Claire and Fouyssac, Fanny and Frange, Pierre and Gajdos, Vincent and Galicier, Lionel and Gandemer, Virginie and Gardembas, Martine and Gaud, Catherine and Grosbois, Bernard and Guffroy, Aurélien and Guitton, Corinne and Guillerm, Gaelle and Hachulla, Eric and Hamidou, Mohamed and Haro, Sophie and Hatchuel, Yves and Hermine, Olivier and Hoarau, Cyrille and Hoen, Bruno and Hot, Arnaud and Humbert, Sébastien and Jaccard, Arnaud and Jacquot, Serge and Jaussaud, Rolland and Jeandel, Pierre-Yves and Jeziorski, Eric and Kebaili, Kamila and Korganow, Anne-Sophie and Lambotte, Olivier and Lanternier, Fanny and Larroche, Claire and Le Quellec, Alain and Le Moigne, Emmanuelle and Le Moing, Vincent and Launay, David and Lebranchu, Yvon and Lecuit, Marc and Lefevre, Guillaume and Lemal, Richard and Li-Thiao-Te, Valérie and Lortholary, Olivier and Malphettes, Marion and Marie-Cardine, Aude and Silva, Nicolas Martin and Masseau, Agathe and Massot, Christian and Mazingue, Françoise and ... and CEREDIH French PID Study Grp and CEREDIH French PID study group
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
[...]the (genetic) diagnostic delay was long for many patients (see below). [...]we looked at whether the patients' region of residence within France (which... 
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
Journal Article
Gastroenterology, ISSN 0016-5085, 2016, Volume 150, Issue 3, pp. 672 - 683.e4
Journal Article
Nature reviews. Genetics, ISSN 1471-0056, 06/2019
Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing... 
Journal Article
Respirology, ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
Journal Article
European Respiratory Journal, ISSN 0903-1936, 07/2014, Volume 44, Issue 1, pp. 270 - 271
Journal Article
Respirology, ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
Journal Article
Haematologica, ISSN 0390-6078, 10/2018, Volume 103, Issue 11, pp. 1796 - 1805
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after I/Fr-related h.emochromatosis. It is an autosomal dominant disorder,... 
DIAGNOSIS | GUIDELINES | HEPCIDIN | SEQUENCE VARIANTS | MAJOR FACILITATOR SUPERFAMILY | HEREDITARY HEMOCHROMATOSIS | HEMATOLOGY | IRON OVERLOAD | FERROPORTIN DISEASE
Journal Article
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
Journal Article
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
Journal Article
Gastroenterology, ISSN 0016-5085, 10/2016, Volume 151, Issue 4, pp. 771 - 772
Journal Article
Chest, ISSN 0012-3692, 2016, Volume 150, Issue 3, pp. e65 - e71
Journal Article
European Respiratory Journal, ISSN 0903-1936, 05/2017, Volume 49, Issue 5, pp. 1602314 - 1602314
Journal Article
Gastroenterology, ISSN 0016-5085, 2016, Volume 151, Issue 4, pp. 771 - 772
Journal Article
European Respiratory Journal, ISSN 0903-1936, 05/2017, Volume 49, Issue 5, pp. 1602022 - 1602022
We read with great interest the article by Newton et al. [1]. They found that mutations in the telomere maintenance machinery genes (telomerase reverse... 
SYSTEM | LUNG | PATHOLOGY | IDIOPATHIC PULMONARY-FIBROSIS | RESPIRATORY SYSTEM | Lung | Telomerase - genetics | Mutation | Ribonuclease A | DNA helicase | Poly(A) | RNA-directed DNA polymerase | Telomerase reverse transcriptase | Lung diseases | Point mutation | Poly(A)-specific ribonuclease | Ribonucleic acid--RNA | Chromosomes | Telomerase | Index Medicus
Journal Article
EUROPEAN RESPIRATORY JOURNAL, ISSN 0903-1936, 11/2017, Volume 50, Issue 5, pp. 1701443 - 1701443
Journal Article
Journal Article
Journal of Heart and Lung Transplantation, ISSN 1053-2498, 2015, Volume 34, Issue 4, pp. 538 - 546
Journal Article
Respirology (Carlton, Vic.), 12/2018
Journal Article
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