부산대학교 도서관

Thompson, Eliza; Abdalla, Ebtesam; Superti-Furga, Andrea; McAlister, William; Kratz, Lisa; Unger, Sheila; Royer-Bertrand, Beryl; Campos-Xavier, Belinda; Mittaz-Crettol, Laureane; Amin, Asmaa K.; DeSanto, Cori; Wilson, David B.; Douglas, Ganka; Kozel, Beth; Shinawi, Marwan

In Bone March 2019 120:354-363

Voinea, Camelia; Gonzalez Rodriguez, Elena; Beigelman-Aubry, Catherine; Leroy, Victor; Aubry-Rozier, Bérengère; Campos-Xavier, Belinda; Ballhausen, Diana; Lazor, Romain; Barbey, Frédéric; Bonafé, Luisa; Superti-Furga, Andrea; Tran, Christel

Journal of Bone and Mineral Metabolism. 37(2):378-383

Paganini, Chiara; Carroll, Ricki S.; Gramegna Tota, Chiara; Schelhaas, Andrea J.; Leone, Alessandra; Duker, Angela L.; O'Connell, David A.; Coghlan, Ryan F.; Johnstone, Brian; Ferreira, Carlos R.; Peressini, Sabrina; Albertini, Riccardo; Forlino, Antonella; Bonafé, Luisa; Campos-Xavier, Ana Belinda; Superti-Furga, Andrea; Zankl, Andreas; Rossi, Antonio; Bober, Michael B.

In Bone October 2023 175

Unger, S; Gorna, MW; Le Bechec, A; Do Vale-Pereira, S; Bedeschi, MF; Geiberger, S; Grigelioniene, G; Horemuzova, E; Lalatta, F; Lausch, E; Magnan, C; Nampoothiri, S; Nishimura, G; Petrella, D; Rojas-Ringeling, F; Utsunomiya, A; Zabel, B; Pradervand, S; Harshman, K; Campos-Xavier, B; Bonafe, L; Superti-Furga, G; Stevenson, B; Superti-Furga, A

American journal of human genetics. 92(6):990-995

Touilloux, Brice; Lu, Henri; Campos-Xavier, Belinda; Superti-Furga, Andrea; Hauschild, Michael; Bouthors, Thérèse; Tran, Christel

BioMed Central 9/30/2021; v.21 n.1, 1-1. (1p)

Botto, LD; Meeths, M; Campos-Xavier, B; Bergamaschi, R; Mazzanti, L; Scarano, E; Finocchi, A; Cancrini, C; Zirn, B; Kuhnle, I; Kramm, CM; Alanay, Y; Jones, WD; Irving, M; Sabir, A; Henter, JI; Borgstrom, B; Nordgren, A; Hammarsjo, A; Putti, C; Mozzato, C; Zuccarello, D; Nishimura, G; Bonafe, L; Grigelioniene, G; Unger, S; Superti-Furga, A

American journal of medical genetics. Part A. 185(2):517-527

Peter, Virginie G.; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B.; Di Gioia, Silvio Alessandro; Soares, Gabriela; Ferraz Leal, Gabriela; Silva, Eduardo D.; Pescini Gobert, Rosanna; Miyake, Noriko; Matsumoto, Naomichi; Engle, Elizabeth C.; Unger, Sheila; Shapiro, Frederic; Superti-Furga, Andrea; Rivolta, Carlo; Campos-Xavier, Belinda

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2734-2743

Arlabosse T; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Riccio O; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Schnider C; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Angelini F; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Perreau M; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Rochat I; Pediatric Pulmonology and Cystic Fibrosis Unit, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Héritier S; Division of Pediatric Hematology and Oncology, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Distefano M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Roelens M; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Borie R; Department of Medicine, Bichat Hospital, AP-HP, Paris, France.; Le Brun M; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Crestani B; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, 10065, USA.; Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Hofer M; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Fieschi C; Department of Clinical Immunology, Paris Cité University, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.; Theodoropoulou K; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France. vivien.beziat@inserm.fr.; Paris Cité University, Imagine Institute, Paris, France. vivien.beziat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. vivien.beziat@inserm.fr.; Candotti F; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. fabio.candotti@chuv.ch.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Arlabosse T; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Riccio O; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Schnider C; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Angelini F; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Perreau M; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Rochat I; Pediatric Pulmonology and Cystic Fibrosis Unit, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Héritier S; Division of Pediatric Hematology and Oncology, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Distefano M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Roelens M; Paris Cite University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Borie R; Department of Medicine, Bichat Hospital, AP-HP, Paris, France.; Le Brun M; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Crestani B; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, 10065, USA.; Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Hofer M; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Fieschi C; Department of Clinical Immunology, Paris Cite University, Assistance Publique Hopitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.; Theodoropoulou K; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France. vivien.beziat@inserm.fr.; Paris Cite University, Imagine Institute, Paris, France. vivien.beziat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. vivien.beziat@inserm.fr.; Candotti F; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. fabio.candotti@chuv.ch.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: PubMed not MEDLINE; MEDLINE

Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep

HUMAN MUTATION; DEC 11 2021, 17p.