未登录 分享 收藏
分享 收藏
Genetic testing outcomes: insights from a decade of experience at a single center 基因检测结果：来自单一中心十年经验的见解 Pais, Telma; Jesus, Ana Patricia; Rodrigues, Marcia; Chiodo, Yuri; Silveira, Catarina; de Almeida, Jose; Fonseca, Agapito; Goncalves, Sara; Lopes, Jose Antonio; Jorge, Sofia 分享 收藏
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 eficiency in humans and flies (vol 14, e1007386, 2018) Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstadter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias 分享 收藏
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome Braun, Daniela A.; Lovric, Svjetlana; Schapiro, David; Schneider, Ronen; Marquez, Jonathan; Asif, Maria; Hussain, Muhammad Sajid; Daga, Ankana; Widmeier, Eugen; Rao, Jia; Ashraf, Shazia; Tan, Weizhen; Lusk, C. Patrick; Kolb, Amy; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A.; Eddy, Kaitlyn; Kitzler, Thomas M.; Shril, Shirlee; Moawia, Abubakar; Schrage, Kathrin; Khayyat, Arwa Ishaq A.; Lawson, Jennifer A.; Gee, Heon Yung; Warejko, Jillian K.; Hermle, Tobias; Majmundar, Amar J.; Hugo, Hannah; Budde, Birgit; Motameny, Susanne; Altmueller, Janine; Noegel, Angelika Anna; Fathy, Hanan M.; Gale, Daniel P.; Waseem, Syeda Seema; Khan, Ayaz; Kerecuk, Larissa; Hashmi, Seema; Mohebbi, Nilufar; Ettenger, Robert; Serdaroglu, Erkin; Alhasan, Khalid A.; Hashem, Mais; Goncalves, Sara; Ariceta, Gema; Ubetagoyena, Mercedes; Antonin, Wolfram; Baig, Shahid Mahmood; Alkuraya, Fowzan S.; Shen, Qian; Xu, Hong; Antignac, Corinne; Lifton, Richard P.; Mane, Shrikant; Nuernberg, Peter; Khokha, Mustafa K.; Hildebrandt, Friedhelm 分享 收藏
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstaedter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias 分享 收藏
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Lovric, Svjetlana; Goncalves, Sara; Gee, Heon Yung; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Widmeier, Eugen; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussee, Noelle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Desir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas, Nuria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P.; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.; Hildebrandt, Friedhelm 分享 收藏
Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks Boerries, Melanie; Grahammer, Florian; Eiselein, Sven; Buck, Moritz; Meyer, Charlotte; Goedel, Markus; Bechtel, Wibke; Zschiedrich, Stefan; Pfeifer, Dietmar; Laloe, Denis; Arrondel, Christelle; Goncalves, Sara; Krueger, Marcus; Harvey, Scott J.; Busch, Hauke; Dengjel, Joern; Huber, Tobias B. 分享 收藏
AG490 Promotes HIF-1α Accumulation by Inhibiting Its Hydroxylation Fernandez-Sanchez, R.; Berzal, S.; Sanchez-Nino, Maria-Dolores; Neria, F.; Goncalves, S.; Calabia, O.; Tejedor, A.; Calzada, M. J.; Caramelo, C.; Deudero, J. J. P.; Ortiz, A. 分享 收藏
分享 收藏
分享 收藏
TNF Superfamily: A Growing Saga of Kidney Injury Modulators Sanchez-Nino, Maria D.; Benito-Martin, Alberto; Goncalves, Sara; Sanz, Ana B.; Ucero, Alvaro C.; Izquierdo, Maria C.; Ramos, Adrian M.; Berzal, Sergio; Selgas, Rafael; Ruiz-Ortega, Marta; Egido, Jesus; Ortiz, Alberto 分享 收藏
分享 收藏
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}
