未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive 致病性GABRA3变异的功能后果决定了X连锁遗传是显性还是隐性 Johannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K. 分享 收藏
分享 收藏
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis 波兰扩张型心肌病的遗传架构：变异分布、临床特征及预后 Chmielewski, Przemyslaw; Truszkowska, Grazyna; Kostrzewa, Grazyna; Michalak, Ewa; Stawinski, Piotr; Kowalik, Ilona; Minota, Ilona; Leszek, Przemyslaw; Mazurkiewicz, Lukasz; Krzyszton-russjan, Jolanta; Ploski, Rafal; Bilinska, Zofia T. 分享 收藏
分享 收藏
分享 收藏
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies 将深度表型量化与下一代表型分析相结合，对192名具有生殖系组蛋白病的个体进行研究 Lubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K. 分享 收藏
分享 收藏
PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events Sudomir, Maria; Chmielewski, Przemyslaw; Truszkowska, Grazyna; Klopotowski, Mariusz; Spiewak, Mateusz; Legatowicz-Koprowska, Marta; Gawor-Prokopczyk, Monika; Szczygiel, Justyna; Zakrzewska-Koperska, Joanna; Kruk, Mariusz; Krzyszton-Russjan, Jolanta; Grzybowski, Jacek; Ploski, Rafal; Bilinska, Zofia T. 分享 收藏
分享 收藏
分享 收藏
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies RYBP基因中的新发变异与严重的神经发育障碍和先天性畸形相关。 Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan 分享 收藏
分享 收藏
Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males 线粒体伴侣TRAP1的突变导致男性自闭症症状更严重 Rydzanicz, Malgorzata; Kuzniewska, Bozena; Magnowska, Marta; Wojtowicz, Tomasz; Stawikowska, Aleksandra; Hojka, Anna; Borsuk, Ewa; Meyza, Ksenia; Gewartowska, Olga; Gruchota, Jakub; Milek, Jacek; Wardaszka, Patrycja; Chojnicka, Izabela; Kondrakiewicz, Ludwika; Dymkowska, Dorota; Puscian, Alicja; Knapska, Ewelina; Dziembowski, Andrzej; Ploski, Rafal; Dziembowska, Magdalena 分享 收藏
Stereotactic treatment with neoadjuvant radiotherapy and enfortumab vedotin: A phase I/II study for localized, cisplatin ineligible, muscle invasive bladder cancer (STAR-EV) 立体定向治疗联合新辅助放疗和enfortumab vedotin：一项针对局部性、顺铂不适用、肌层浸润性膀胱癌（STAR-EV）的I/II期研究 Zhang, T.; Woldu, S.; Qin, Q.; Cole, S.; Arafat, W.; Jiang, C.; Wang, J.; Courtney, K.; DeVilbiss, A.; Ploski, R.; Hannan, R.; Yang, D.; Garant, A.; Tachibana, I.; Gaston, K.; Wang, A. Z.; Margulis, V.; Lotan, Y.; Desai, N. 分享 收藏
HARMONY: A phase II study of niraparib (N)/abiraterone acetate (AA) plus prednisone (P) for Hispanic/Latino (HL) and non-Hispanic Black (NHB) patients (pts) with metastatic hormone sensitive prostate cancer (mHSPC) and deleterious homologous recombination repair alterations (HRRa) HARMONY：一项关于尼拉帕利（N）/阿比特龙醋酸盐（AA）联合泼尼松（P）治疗西班牙裔/拉美裔（HL）和非西班牙裔黑人（NHB）患者中具有转移性激素敏感性前列腺癌（mHSPC）及有害同源重组修复改变（HRRa）的II期研究 Qin, Q.; Zhang, S.; Jiang, C. C.; Courtney, K.; Wang, J.; Arafat, W.; Cole, S.; Heath, E.; Ploski, R.; Zhang, T. 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png)
ANNALS OF ONCOLOGY.png)
.png){kind=icon}
分享.png){kind=icon}
收藏