Xavier Dieu

institut national de la santé et de la recherche médicale (inserm)

H指数:10

被引数:237

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Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions

基因组新生儿筛查作为罕见病管理范式的转变，重点在于内分泌状况

Annales d Endocrinologie

IF2.9

2026-04-010

PRE

Faivre, Laurence; Level, Camille; Coutant, Regis; Rodien, Patrice; Barlier, Anne; Saveanu, Alexandru; Bouvattier, Claire; Bretones, Patricia; Martinerie, Laetitia; Rossignol, Sylvie; Lenelle, Camille; Roucher, Florence; Binquet, Christine; Pasquier, Laurent; Davoine, Emeline; Cormier, Coline; Bournez, Marie; Maudinas, Raphaelle; Gonnot, Maxime; Lefevre, Augustin; Maraval, Julien; Safraou, Hana; Duffourd, Yannis; Bellanne-Chantelot, Christine; Saint-Martin, Cecile; Bergougnoux, Anne; Mallet, Delphine; Bouligand, Jerome; de Roux, Nicolas; Coppin, Lucie; Diene, Gwenaelle; Poitoux, Christine; Prunier, Delphine; Dieu, Xavier; Burnichon, Nelly; Christin-Maitre, Sophie; Jaillard, Sylvie; Launay, Erika; Rabes, Jean-Pierre; Benlian, Pascale; Di Filippo, Mathilde; Marmontel, Oriane; Bernert, Christine Poitou; Vigouroux, Corinne; Bismuth, Elise; Beltrand, Jacques; Polak, Michel; Giraud, Sophie; Pigny, Pascal; Savagner, Frederique; Petit, Isabelle Olivier; Arnoux, Jean-Baptiste; Beliard, Sophie; Odou, Marie-Francoise; Romanet, Pauline; Molin, Arnaud; Apetrei, Andreea; Richard, Nicolas; Pacot, Laurence; Pasmant, Eric; Hureaux, Marguerite; Vargas, Rosa; Gay-Bellile, Mathilde; Aouchiche, Karine; Carrie, Alain; Chauvet, Margaux; Gallo, Antonio; Lemale, Julie; Moulin, Philippe; Peretti, Noel; Thauvin-Robinet, Christel; Huet, Frederic; Tardy-Guidolet, Veronique

二甲双胍相关死亡——法医毒理学和死后生物化学分析相结合在涉及抗糖尿病药物死亡事件中的重要性

FORENSIC SCIENCE INTERNATIONAL

IF2.5

2025-10-011

OAAI

Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism

实验室医学揭示了D-乳酸性酸中毒的异常原因，这是罕见的先天性代谢异常代偿失调的诱因

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2023-06-190

PRE

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2023-03-082

Levaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frederic; Jager, Jessica Amsellem; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; de la Perriere, Aude Brac; Djellas, Yasmine Braik; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylene; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurelie; Doye, Emilie; Fradin, Melanie; Gaudilliere, Melanie; Gatelais, Frederique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloe; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stephanie; Teinturier, Cecile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Regis

Accurate stratification between VEXAS syndrome and differential diagnoses by deep learning analysis of peripheral blood smears

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2023-02-0211

PRE

In Reply to Performance of Deep Learning in the Interpretation of Serum Protein Electrophoresis

回应深度学习在血清蛋白电泳解释中的表现

CLINICAL CHEMISTRY

IF6.3

2022-09-152