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收藏MGA loss-of-function variants cause premature ovarian insufficiencyMGA功能丧失变异导致早发性卵巢功能不全
Tang, Shuyan; Guo, Ting; Song, Chengcheng; Wang, Lingbo; Zhang, Jun; Rajkovic, Aleksandar; Lin, Xiaoqi; Chen, Shiling; Liu, Yujun; Tian, Weidong; Wu, Bangguo; Wang, Shixuan; Wang, Wenwen; Lai, Yunhui; Wang, Ao; Xu, Shuhua; Jin, Li; Ke, Hanni; Zhao, Shidou; Li, Yan; Qin, Yingying; Zhang, Feng; Chen, Zi-Jiang
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收藏Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants
Aminbeidokhti, Mona; Qu, Jia-Hua; Belur, Shweta; Cakmak, Hakan; Jaswa, Eleni; Lathi, Ruth B.; Sirota, Marina; Snyder, Michael P.; Yatsenko, Svetlana A.; Rajkovic, Aleksandar
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收藏45,X/46,XY mosaicism: Retrospective study of 100 patients
Alkhunaizi, Ebba; Plamondon, Jenna; Aarabi, Mahmoud; Wherrett, Diane; Babul-Hirj, Riyana; Dupuis, Annie; Chiniara, Lyne; Witchel, Selma F.; Rajkovic, Aleksandar; George, Mary Ann; Shuman, Cheryl; Yatsenko, Svetlana; Chitayat, David
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收藏Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Gregg, Anthony R.; Aarabi, Mahmoud; Klugman, Susan; Leach, Natalia T.; Bashford, Michael T.; Goldwaser, Tamar; Chen, Emily; Sparks, Teresa N.; Reddi, Honey, V; Rajkovic, Aleksandar; Dungan, Jeffrey S.
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收藏Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
Bestetti, I; Barbieri, C.; Sironi, A.; Specchia, V; Yatsenko, S. A.; De Donno, M. D.; Caslini, C.; Gentilini, D.; Crippa, M.; Larizza, L.; Marozzi, A.; Rajkovic, A.; Toniolo, D.; Bozzetti, M. P.; Finelli, P.
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收藏Reproductive outcomes in individuals with chromosomal reciprocal translocations
Verdoni, Angela; Hu, Jie; Surti, Urvashi; Babcock, Melanie; Sheehan, Elizabeth; Clemens, Michele; Drewes, Sarah; Walsh, Leslie; Clark, Rebecca; Katari, Sunita; Sanfilippo, Joe; Saller, Devereux N.; Rajkovic, Aleksandar; Yatsenko, Svetlana A.
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收藏Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) geneWilms' 肿瘤1 (WT1) 基因的新型致病变异导致XX个体的睾丸形成
Eozenou, Caroline; Gonen, Nitzan; Touzon, Maria Sol; Jorgensen, Anne; Yatsenko, Svetlana A.; Fusee, Leila; Kamel, Alaa K.; Gellen, Balazs; Guercio, Gabriela; Singh, Priti; Witchel, Selma; Berman, Andrea J.; Mainpal, Rana; Totonchi, Mehdi; Meybodi, Anahita Mohseni; Askari, Masomeh; Merel-Chali, Tiphanie; Bignon-Topalovic, Joelle; Migale, Roberta; Costanzo, Mariana; Marino, Roxana; Ramirez, Pablo; Garrido, Natalia Perez; Berensztein, Esperanza; Mekkawy, Mona K.; Schimenti, John C.; Bertalan, Rita; Mazen, Inas; McElreavey, Ken; Belgorosky, Alicia; Lovell-Badge, Robin; Rajkovic, Aleksandar; Bashamboo, Anu
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收藏Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch
Hilbold, Erika; Distl, Ottmar; Hoedemaker, Martina; Wilkening, Sandra; Behr, Ruediger; Rajkovic, Aleksandar; Langeheine, Marion; Rode, Kristina; Jung, Klaus; Metzger, Julia; Brehm, Ralph H. J.
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