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R

Raja Brauner

Pasteur Network
H指数:69
被引数:1.2万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

患有生长和青春期体质延迟的患者中MC3R有害变体的患病率

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2023-06-207
OA
Duckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort
CLINICAL ENDOCRINOLOGY
IF2.4
2020-12-2128
OAAI
Jullien, Nicolas; Saveanu, Alexandru; Vergier, Julia; Marquant, Emeline; Quentien, Marie Helene; Castinetti, Frederic; Galon-Faure, Noemie; Brauner, Raja; Marrakchi Turki, Zinet; Tauber, Maite; El Kholy, Mohamed; Linglart, Agnes; Rodien, Patrice; Fedala, Nora Soumeya; Bergada, Ignacio; Cortet-Rudelli, Christine; Polak, Michel; Nicolino, Marc; Stuckens, Chantal; Barlier, Anne; Brue, Thierry; Reynaud, Rachel
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
HUMAN MOLECULAR GENETICS
IF3.2
2020-07-0316
OAAI
Davis, Erica E.; Balasubramanian, Ravikumar; Kupchinsky, Zachary A.; Keefe, David L., Jr.; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E.; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J.; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivon; Fernandez-Alvarez, Paula; Wierman, Margaret E.; Li, Taibo; Lage, Kasper; Barroso, Priscila Sales; Chan, Yee-Ming; Crowley, William F.; Katsanis, Nicholas
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
GENETICS IN MEDICINE
IF6.2
2020-01-0141
OAAI
McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2018-05-0765
OAAI
Harris, Abigail; Siggers, Pam; Corrochano, Silvia; Warr, Nick; Sagar, Danielle; Grimes, Daniel T.; Suzuki, Makoto; Burdine, Rebecca D.; Cong, Feng; Koo, Bon-Kyoung; Clevers, Hans; Stevant, Isabelle; Nef, Serge; Wells, Sara; Brauner, Raja; Ben Rhouma, Bochra; Belguith, Neila; Eozenou, Caroline; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken; Greenfield, Andy
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
HUMAN MOLECULAR GENETICS
IF3.2
2018-01-2461
OAAI
Portnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F.; Duncan, Andrew J.; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A.; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon, Capucine; Louis-Sylvestre, Christine; Validire, Pierre; Pichard, Caroline de Malleray; Ravel, Celia; Christin-Maitre, Sophie; Brauner, Raja; Rossetti, Raffaella; Persani, Luca; Charreau, Eduardo H.; Dain, Liliana; Chiauzzi, Violeta A.; Mazen, Inas; Rouba, Hassan; Schluth-Bolard, Caroline; MacGowan, Stuart; McLean, W. H. Irwin; Patin, Etienne; Rajpert-De Meyts, Ewa; Jauch, Ralf; Achermann, John C.; Siffroi, Jean-Pierre; McElreavey, Ken; Bashamboo, Anu
A therapeutic education program focuses on the transition of patients, with chronic endocrine conditions, between pediatric and adult endocrinology services (vol 45, pg e119, 2016)
PRESSE MEDICALE
IF3.4
2016-07-010
PREAI
Malivoir, Sabine; Courtillot, Carine; Bachelot, Anne; Chakhtoura, Zeina; Tejedor, Isabelle; Touraine, Philippe; Polak, Michel; Leger, Julianne; Pinto, Graziella; Brauner, Raja; Crosnier, Helene; Bidet, Maud; Doz, Francois; Dufour, Christelle; Grill, Jacques; Zenaty, Delphine; Brugieres, Laurence; Carel, Jean Claude; Czernichow, Paul; Houang, Muriel; Patte, Catherine; Pawels, Christian; Crepon, Sophie Guilmin; Personnier, Claire; Sainte Rose, Christian; Thalassinos, Caroline

研究方向

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K
Ken McElreavey
H 指数:66论文数:299被引数:1.6万
C
Christine Trivin
H 指数:29论文数:74被引数:2,580
A
Anu Bashamboo
H 指数:39论文数:167被引数:4,736
L
Luís Adan
H 指数:34论文数:105被引数:2,538
M
Michel Zérah
H 指数:0论文数:0被引数:26
C
Christian Sainte‐Rose
H 指数:70论文数:413被引数:1.6万
J
Joëlle Bignon‐Topalovic
H 指数:19论文数:69被引数:1,559
F
François Doz
H 指数:73论文数:578被引数:1.9万
M
Martin Chalumeau
H 指数:49论文数:284被引数:1.3万
W
Wassim Chemaitilly
H 指数:45论文数:210被引数:8,699