未登录 分享 收藏
分享 收藏
分享 收藏
Common and Distinct Features in Serum Proteomic Profiles in Keratoconus, Post-Laser Vision Correction Ectasia, and Pellucid Marginal Degeneration 圆锥角膜、激光视力矫正术后角膜扩张和pellucid marginal degeneration血清蛋白质组谱中的共同和独特特征 Jaskiewicz-Rajewicz, Katarzyna; Wysocka, Alicja; Matuszewska-Mach, Eliza; Rzetecka, Natalia; Maleszka-Kurpiel, Magdalena; Wozniak, Jakub; Michalski, Andrzej; Udziela, Monika; Szaflik, Jacek P.; Ploski, Rafal; Rydzanicz, Malgorzata; Matysiak, Jan; Gajecka, Marzena 分享 收藏
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
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
Long read sequencing identifies complex structural variant landscape and recurrent TERT rearrangements in mucoepidermoid carcinoma Gensterblum-Miller, Elizabeth; Bhangale, Apurva; Al Majid, Dana; Pienkowski, Victor Murcia; Rydzanicz, Malgorzata; Janiszewska, Joanna; Kostrzewska-Poczekaj, Magdalena; Chang, Clifford; Brummel, Collin; Michmerhuizen, Nicole L.; Wang, Jiayu; Sandford, Erin; Tewari, Muneesh; Wierzbicka, Malgorzata; Birkeland, Andrew C.; McHugh, Jonathan B.; Spector, Matthew E.; Giefing, Maciej; Jarmuz-Szymczak, Malgorzata; Neal, Molly E. Heft; Brenner, J. Chad 分享 收藏
分享 收藏
Epigenomic and phenotypic characterization of DEGCAGS syndrome Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Dollner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia 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
Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes Gajecka, Marzena; Gutaj, Pawel; Jaskiewicz, Katarzyna; Rydzanicz, Malgorzata; Szczapa, Tomasz; Kaminska, Dorota; Kosewski, Grzegorz; Przyslawski, Juliusz; Ploski, Rafal; Wender-Ozegowska, Ewa 分享 收藏
Enteroviral central nervous system infections in patients with Lyme neuroborreliosis Perlejewski, Karol; Radkowski, Marek; Pawelczyk, Agnieszka; Rydzanicz, Malgorzata; Dzieciatkowski, Tomasz; Makowiecki, Micha l; Paciorek, Marcin; Welc-Faleciak, Renata; Horban, Andrzej; Laskus, Tomasz 分享 收藏
分享 收藏
Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation Jaworska, Marcelina M.; Pecyna, Paulina; Jaskiewicz, Katarzyna; Rydzanicz, Malgorzata; Kaluzna, Malgorzata; Pawlaczyk, Krzysztof; Ploski, Rafal; Nowak-Malczewska, Dorota M.; Karolak, Justyna A.; Gajecka, Marzena 分享 收藏
分享 收藏
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
