未登录Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry .png)
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收藏分享 收藏 Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsConnaughton, Dervla M.; Dai, Rufeng; Owen, Danielle J.; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L.; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle Mn; St-Germain, Jonathan R.; Blok, Lot Snijders; Vino, Arianna; Klambt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M.; Majmundar, Amar J.; Buerger, Florian; Onuchic-Whitford, Ana C.; Mao Youying; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T.; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M.; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C.; Hermle, Tobias; Alders, Marielle; Bartolomaeus, Tobias; Bauer, Stuart B.; Baum, Michelle A.; Brilstra, Eva H.; Challman, Thomas D.; Zyskind, Jacob; Costin, Carrie E.; Dipple, Katrina M.; Duijkers, Floor A.; Ferguson, Marcia; Fitzpatrick, David R.; Fick, Roger; Glass, Ian A.; Hulick, Peter J.; Kline, Antonie D.; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J.; Wentzensen, Ingrid M.; Mefford, Heather C.; Platzer, Konrad; Povolotskaya, Inna S.; Savatt, Juliann M.; Shcherbakova, Natalia, V; Senguttuvan, Prabha; Squire, Audrey E.; Stein, Deborah R.; Thiffault, Isabelle; Voinova, Victoria Y.; Somers, Michael J. G.; Ferguson, Michael A.; Traum, Avram Z.; Daouk, Ghaleb H.; Daga, Ankana; Rodig, Nancy M.; Terhal, Paulien A.; van Binsbergen, Ellen; Eid, Loai A.; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y.; Ahram, Dina F.; Gharavi, Ali G.; Reutter, Heiko M.; Rehm, Heidi L.; MacArthur, Daniel G.; Lek, Monkol; Laricchia, Kristen M.; Lifton, Richard P.; Xu, Hong; Mane, Shrikant M.; Sanna-Cherchi, Simone; Sharrocks, Andrew D.; Raught, Brian; Fisher, Simon E.; Bouchard, Maxime; Khokha, Mustafa K.; Shril, Shirlee; Hildebrandt, Friedhelm 分享 收藏 分享 收藏 An experimental assay of the interactions of amino acids from orthologous sequences shaping a complex fitness landscapePokusaeva, Victoria O.; Usmanova, Dinara R.; Putintseva, Ekaterina, V; Espinar, Lorena; Sarkisyan, Karen S.; Mishin, Alexander S.; Bogatyreva, Natalya S.; Ivankov, Dmitry N.; Akopyan, Arseniy, V; Avvakumov, Sergey Ya; Povolotskaya, Inna S.; Filion, Guillaume J.; Carey, Lucas B.; Kondrashov, Fyodor A. 分享 收藏 Genetically encodable bioluminescent system from fungi来自真菌的可遗传编码的生物发光系统Kotlobay, Alexey A.; Sarkisyan, Karen S.; Mokrushina, Yuliana A.; Marcet-Houben, Marina; Serebrovskaya, Ekaterina O.; Markina, Nadezhda M.; Somermeyer, Louisa Gonzalez; Gorokhovatsky, Andrey Y.; Vvedensky, Andrey; Purtov, Konstantin V.; Petushkov, Valentin N.; Rodionova, Natalja S.; Chepurnyh, Tatiana V.; Fakhranurova, Liliia I.; Guglya, Elena B.; Ziganshin, Rustam; Tsarkova, Aleksandra S.; Kaskova, Zinaida M.; Shender, Victoria; Abakumov, Maxim; Abakumova, Tatiana O.; Povolotskaya, Inna S.; Eroshkin, Fedor M.; Zaraisky, Andrey G.; Mishin, Alexander S.; Dolgov, Sergey V.; Mitiouchkina, Tatiana Y.; Kopantzev, Eugene P.; Waldenmaier, Hans E.; Oliveira, Anderson G.; Oba, Yuichi; Barsova, Ekaterina; Bogdanova, Ekaterina A.; Gabaldon, Toni; Stevani, Cassius V.; Lukyanov, Sergey; Smirnov, Ivan V.; Gitelson, Josef I.; Kondrashov, Fyodor A.; Yampolsky, Ilia V. 分享 收藏 Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencingSerres-Armero, Aitor; Povolotskaya, Inna S.; Quilez, Javier; Ramirez, Oscar; Santpere, Gabriel; Kuderna, Lukas F. K.; Hernandez-Rodriguez, Jessica; Fernandez-Callejo, Marcos; Gomez-Sanchez, Daniel; Freedman, Adam H.; Fan, Zhenxin; Novembre, John; Navarro, Arcadi; Boyko, Adam; Wayne, Robert; Vila, Carles; Lorente-Galdos, Belen; Marques-Bonet, Tomas 分享 收藏 A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)一种3向混合方法，用于生成新的高质量黑猩猩参考基因组 (Pan_tro_3.0)Kuderna, Lukas F. K.; Tomlinson, Chad; Hillier, LaDeana W.; Tran, Annabel; Fiddes, Ian T.; Armstrong, Joel; Laayouni, Hafid; Gordon, David; Huddleston, John; Garcia Perez, Raquel; Povolotskaya, Inna; Serres Armero, Aitor; Gomez Garrido, Jessica; Ho, Daniel; Ribeca, Paolo; Alioto, Tyler; Green, Richard E.; Paten, Benedict; Navarro, Arcadi; Betranpetit, Jaume; Herrero, Javier; Eichler, Evan E.; Sharp, Andrew J.; Feuk, Lars; Warren, Wesley C.; Marques-Bonet, Tomas 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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