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研究兴趣

论文共 175 篇作者统计合作学者相似作者

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[Thinking about Transcultural Prenatal Genetic Counseling]
Giulia Barcia,Sophie Monnot, Roxana Borghese, Joana Bengoa, Isam Idris,Julie Steffann
Soins Pediatrie, puericultureno. 343 (2025): 44-47
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First Real-World Study of Fetal Therapy with CFTR Modulators in Cystic Fibrosis: Report from the MODUL-CF Study
Anne-Sophie Bonnel,Tiphaine Bihouée, Mélanie Ribault, Marine Driessen, David Grèvent,Frantz Foissac, Ngoc Hoa Truong, Myriam Benhamida, Baptiste Arnouat, Roxana Borghese,Frédérique Chedevergne, Laure Couderc-Kohen, Jennifer da Silva,Dominique Grenet,Véronique Houdouin, Anais Le, Sarah Marchal,Eric Deneuville, Delphine Pouradier, Véronique Rousseau,Jean-Marc Treluyer, Arnaud Francart,Julie Steffann,Philippe Reix,Sihem Benaboud, Marie France Mamzer,Yves Ville,Clémence Martin,Pierre-Régis Burgel,Isabelle Sermet-Gaudelus, MODUL-CF study group
Journal of cystic fibrosis official journal of the European Cystic Fibrosis Society (2025)
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Genetic Heterogeneity and Somatic Mosaicism in Cornelia De Lange Syndrome
Sophie Rondeau,Anne-Laure Tourre,Ghislaine Royer,Caroline Michot,Julie Steffann, Valerie Cormier-Daire
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 232-232
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Incontinentia Pigmenti Underlies Thymic Dysplasia, Autoantibodies to Type I IFNs, and Viral Diseases
Jeremie Rosain,Tom Le Voyer,Xian Liu,Adrian Gervais,Laura Polivka,Axel Cederholm,Laureline Berteloot,Audrey V. Parent,Alessandra Pescatore, Ezia Spinosa,Snezana Minic,Ana Elisa Kiszewski,Miyuki Tsumura, Chloe Thibault,Maria Esnaola Azcoiti,Jelena Martinovic,Quentin Philippot,Taushif Khan,Astrid Marchal,Benedicte Charmeteau-De Muylder,Lucy Bizien,Caroline Deswarte,Lillia Hadjem,Marie-Odile Fauvarque,Karim Dorgham,Daniel Eriksson,Emilia Liana Falcone, Mathilde Puel, Sinem Uenal, Amyrath Geraldo,Corentin Le Floc'h,Hailun Li,Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand,Anne Welfringer-Morin,Ramsay L. Fuleihan,Romain Levy,Marie Roelens, Liwei Gao,Marie Materna,Silvia Pellegrini,Lorenzo Piemonti,Emilie Catherinot,Jean-Christophe Goffard,Arnaud Fekkar, Aissata Sacko-Sow,Camille Soudee,Soraya Boucherit,Anna-Lena Neehus,Cristina Has,Stefanie Huebner, Geraldine Blanchard-Rohner,Blanca Amador-Borrero,Takanori Utsumi,Maki Taniguchi,Hiroo Tani,Kazushi Izawa,Takahiro Yasumi,Sotaro Kanai,Melanie Migaud,Melodie Aubart,Nathalie Lambert,Guy Gorochov,Capucine Picard,Claire Soudais,Anne-Sophie L'Honneur,Flore Rozenberg,Joshua D. Milner,Shen-Ying Zhang, Pierre Vabres,Dusan Trpinac,Nico Marr,Nathalie Boddaert,Isabelle Desguerre,Manolis Pasparakis,Corey N. Miller, Claudia S. Poziomczyk,Laurent Abel,Satoshi Okada,Emmanuelle Jouanguy,Remi Cheynier,Qian Zhang,Aurelie Cobat,Vivien Beziat,Bertrand Boisson,Julie Steffann,Francesca Fusco,Matilde Valeria Ursini,Smail Hadj-Rabia,Christine Bodemer,Jacinta Bustamante,Herve Luche,Anne Puel,Gilles Courtois,Paul Bastard,Nils Landegren,Mark S. Anderson,Jean-Laurent Casanova
JOURNAL OF EXPERIMENTAL MEDICINE（2024）
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P-536 Preimplantation Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome Due to BRCA Pathogenic Variant : the Parisian Center Experience
R. Borghese,J. Steffann, O. Lassartesse, F. Souare, N. Achour,A. Mayeur,A. Benachi, D. Stoppa Lyonnet,M. Grynberg,C. Sonigo
Human Reproductionno. Supplement_1 (2024)
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Lessons from Two Series by Physicians and Caregivers' Self-Reported Data in DDX3X-related Disorders
Valentin Ruault,Pauline Burger, Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,Jean-Luc Alessandri,Stephanie Arpin,Giulia Barcia,Sarka Bendova,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solene Conrad,Valerie Cormier Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andree Delahaye-Duriez,Martine Doco,William Dufour,Benjamin Durand,Camille Engel,Laurence Faivre, Fanny Ferroul,Melanie Fradin, Helene Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,Benedicte Gerard,David Germanaud,Louise Goujon,Aurelie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Heron,Bertrand Isidor,Nolwenn Jean Marcais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz, Victoria Lamure,Anne-Sophie Lebre,Francois Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet, Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gael Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amelie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlene Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,Frederic Tran Mau Them,Gabriele Trimarchi,Marie Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinova,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Genevieve
Molecular Genetics & Genomic Medicine（2024）
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作者统计

#Papers: 176

#Citation: 3389

H-Index: 31

G-Index: 55

Sociability: 7

Diversity: 3

Activity: 9

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