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6 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
Genome sequencing in families with congenital limb malformations 2021 . Elsner, Jonas \| Mensah, Martin A. \| Holtgrewe, Manuel \| Hertzberg, Jakob \| Bigoni, Stefania \| Busche, Andreas \| Coutelier, Marie \| de Silva, Deepthi C. \| Elçioglu, Nursel \| Filges, Isabel \| Gerkes, Erica \| Girisha, Katta M. \| Graul-Neumann, Luitgard \| Jamsheer, Aleksander \| Krawitz, Peter \| Kurth, Ingo \| Markus, Susanne \| Megarbane, Andre \| Reis, André \| Reuter, Miriam S. \| Svoboda, Daniel \| Teller, Christopher \| Tuysuz, Beyhan \| Türkmen, Seval \| Wilson, Meredith \| Woitschach, Rixa \| Vater, Inga \| Caliebe, Almuth \| Hülsemann, Wiebke \| Horn, Denise \| Mundlos, Stefan \| Spielmann, Malte	2021		http://purl.org/ontology/bibo/Article
Achromatopsia: Genetics and Gene Therapy 2021 . Michalakis, Stylianos \| Gerhardt, Maximilian \| Rudolph, Günther \| Priglinger, Siegfried \| Priglinger, Claudia	2021		http://purl.org/ontology/bibo/Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment 2021 . Bahena, Paulina \| Daftarian, Narsis \| Maroofian, Reza \| Linares, Paola \| Villalobos, Daniel \| Mirrahimi, Mehraban \| Rad, Aboulfazl \| Doll, Julia \| Hofrichter, Michaela A. H. \| Koparir, Asuman \| Röder, Tabea \| Han, Seungbin \| Sabbaghi, Hamideh \| Ahmadieh, Hamid \| Behboudi, Hassan \| Villanueva-Mendoza, Cristina \| Cortés-Gonzalez, Vianney \| Zamora-Ortiz, Rocio \| Kohl, Susanne \| Kuehlewein, Laura \| Darvish, Hossein \| Alehabib, Elham \| Arenas-Sordo, Maria de la Luz \| Suri, Fatemeh \| Vona, Barbara \| Haaf, Thomas	2021		http://purl.org/ontology/bibo/Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males 2021 . Kreienkamp, Hans-Jürgen \| Wagner, Matias \| Weigand, Heike \| McConkie-Rossell, Allyn \| McDonald, Marie \| Keren, Boris \| Mignot, Cyril \| Gauthier, Julie \| Soucy, Jean-François \| Michaud, Jacques L. \| Dumas, Meghan \| Smith, Rosemarie \| Löbel, Ulrike \| Hempel, Maja \| Kubisch, Christian \| Denecke, Jonas \| Campeau, Philippe M. \| Bain, Jennifer M. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020 2020 . Has, Cristina \| South, Andrew \| Uitto, Jouni	2020		http://purl.org/ontology/bibo/Article