未登录
分享
收藏Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants重组促性腺激素对5例NR0B1 (DAX1) 致病变异体睾丸功能及睾丸精子提取的影响
Teoli, Jordan; Mezzarobba, Vincent; Renault, Lucie; Mallet, Delphine; Lejeune, Herve; Chatelain, Pierre; Tixier, Frederique; Nicolino, Marc; Peretti, Noel; D'estaing, Sandrine Giscard; Cuzin, Beatrice; Dijoud, Frederique; Roucher-Boulez, Florence; Plotton, Ingrid
分享
收藏
分享
收藏
分享
收藏
分享
收藏A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Huber, Celine; Delezoide, Anee-Lise; Guimiot, Fabien; Baumann, Clarisse; Malan, Valerie; Le Merrer, Martine; Da Silva, Daniela Bezerra; Bonneau, Dominique; Chatelain, Pierre; Chu, Carol; Clark, Robin; Cox, Helen; Edery, Patrick; Edouard, Thomas; Fano, Virginia; Gibson, Kate; Gillessen-Kaesbach, Gabriele; Giovannucci-Uzielli, Maria-Luisa; Graul-Neumann, Luitgard Margarete; van Hagen, Johana-Maria; van Hest, Liselot; Horovitz, Dafne; Melki, Judith; Partsch, Carl-Joachim; Plauchu, Henry; Rajab, Anna; Rossi, Massimiliano; Sillence, David; Steichen-Gersdorf, Elisabeth; Stewart, Helen; Unger, Sheila; Zenker, Martin; Munnich, Arnold; Cormier-Daire, Valerie
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH2- and carboxyl-terminal interaction
Quigley, CA; Tan, JA; He, B; Zhou, ZX; Mebarki, F; Morel, Y; Forest, MG; Chatelain, P; Ritzén, EM; French, FS; Wilson, EM
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏