Search Results - Schierbaum, Luca

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  1. 1
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    Health-related quality of life in rare gorms of childhood-onset hereditary spastic paraplegia by Schmidt, Henri (Author) , Battaglia, Nicole (Author) , Rong, Joshua (Author) , Tam, Amy (Author) , Carty, Siofra (Author) , Quiroz, Vicente (Author) , Yang, Kathryn (Author) , Zaman, Zainab (Author) , Schierbaum, Luca (Author) , Bernardi, Katerina (Author) , Alecu, Julian E. (Author) , Ebrahimi-Fakhari, Darius (Author) ,


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  2. 2
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    Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families by Merz, Lea Maria (Author) , Kolvenbach, Caroline M. (Author) , Wang, Chunyan (Author) , Mertens, Nils David (Author) , Seltzsam, Steve (Author) , Mansour, Bshara (Author) , Zheng, Bixia (Author) , Schneider, Sophia (Author) , Schierbaum, Luca (Author) , Hölzel, Selina (Author) , Salmanullah, Daanya (Author) , Pantel, Dalia (Author) , Kalkar, Gina (Author) , Connaughton, Dervla M. (Author) , Mann, Nina (Author) , Wu, Chen-Han Wilfred (Author) , Kause, Franziska (Author) , Nakayama, Makiko (Author) , Dai, Rufeng (Author) , Schneider, Ronen (Author) , Buerger, Florian (Author) , Nicolas-Frank, Camille (Author) , Yousef, Kirollos (Author) , Lemberg, Katharina (Author) , Saida, Ken (Author) , Yu, Seyoung (Author) , Elmubarak, Izzeldin (Author) , Franken, Gijs A. C. (Author) , Lomjansook, Kraisoon (Author) , Braun, Alina (Author) , Bauer, Stuart B. (Author) , Rodig, Nancy M. (Author) , Somers, Michael J. G. (Author) , Traum, Avram Z. (Author) , Stein, Deborah R. (Author) , Daga, Ankana (Author) , Baum, Michelle A. (Author) , Daouk, Ghaleb H. (Author) , Awad, Hazem S. (Author) , Eid, Loai A. (Author) , El Desoky, Sherif (Author) , Shalaby, Mohammed A. (Author) , Kari, Jameela A. (Author) , Ooda, Said (Author) , Fathy, Hanan M. (Author) , Soliman, Neveen A. (Author) , Nabhan, Marwa (Author) , Abdelrahman, Safaa (Author) , Hilger, Alina C. (Author) , Mane, Shrikant M. (Author) , Ferguson, Michael A. (Author) , Tasic, Velibor (Author) , Shril, Shirlee (Author) , Hildebrandt, Friedhelm (Author) ,


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  3. 3
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    The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt (Author) , Powell, Eric (Author) , Rebelo, Adriana P. (Author) , Dohrn, Maike F. (Author) , Beijer, Danique (Author) , Fazal, Sarah (Author) , Xu, Isaac R. L. (Author) , Medina, Jessica (Author) , Chen, Sitong (Author) , Arcia de Jesus, Yeisha (Author) , Schatzman, Jacquelyn (Author) , Hershberger, Ray E. (Author) , Saporta, Mario (Author) , Baets, Jonathan (Author) , Falk, Marni (Author) , Herrmann, David N. (Author) , Scherer, Steven S. (Author) , Reilly, Mary M. (Author) , Cortese, Andrea (Author) , Marques, Wilson (Author) , Cornejo-Olivas, Mario R. (Author) , Sanmaneechai, Oranee (Author) , Kennerson, Marina L. (Author) , Jordanova, Albena (Author) , Silva, Thiago Y. T. (Author) , Pedroso, Jose Luiz (Author) , Schierbaum, Luca (Author) , Ebrahimi-Fakhari, Darius (Author) , Peric, Stojan (Author) , Lee, Yi-Chung (Author) , Synofzik, Matthis (Author) , Tekin, Mustafa (Author) , Ravenscroft, Gianina (Author) , Shy, Mike (Author) , Basak, Nazli (Author) , Schüle-Freyer, Rebecca (Author) , Zuchner, Stephan (Author) ,


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    Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations by Alecu, Julian (Author) , Tam, Amy (Author) , Richter, Silja (Author) , Quiroz, Vicente (Author) , Schierbaum, Luca (Author) , Saffari, Afshin (Author) , Ebrahimi-Fakhari, Darius (Author) ,


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