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3 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020		http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis 2020 . Ganapathi, Mythily \| Argyriou, Loukas \| Martínez-Azorín, Francisco \| Morlot, Susanne \| Yigit, Gökhan \| Lee, Teresa \| Auber, Bernd \| von Gise, Alexander \| Petrey, Donald S. \| Thiele, Holger \| Cyganek, Lukas \| Sabater-Molina, Maria \| Ahimaz, Priyanka \| Cabezas-Herrera, Juan \| Sorlí García , Moises \| Zibat, Arne \| Siegelin, Markus \| Burfeind, Peter \| Buchovecky, Christie M. \| Hasenfuss, Gerd \| Honig, Barry \| Li, Yun \| Iglesias, Alejandro \| Wollnik, Bernd	2020		http://purl.org/ontology/bibo/Article