Fachrepositorium Lebenswissenschaften | Freier Zugang zu Wissensressourcen aus den Lebenswissenschaften

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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans 2021 . Vona, Barbara \| Mazaheri, Neda \| Lin, Sheng-Jia \| Dunbar, Lucy \| Maroofian, Reza \| Azaiez, Hela \| Booth, Kevin T. \| Vitry, Sandrine \| Rad, Abolfazl \| Rüschendorf, Franz \| Varshney, Pratishtha \| Fowler, Ben \| Beetz, Christian \| Alagramam, Kumar N. \| Murphy, David \| Shariati, Gholamreza \| Sedaghat, Alireza \| Houlden, Henry \| Petree, Cassidy \| VijayKumar, Shruthi \| Smith, Richard \| Haaf, Thomas \| EL-AMRAOUI, Aziz \| Bowl, Michael \| Varshney, Gaurav K. \| Galehdari, Hamid	2021		http://purl.org/ontology/bibo/Article
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants 2021 . Kehrer-Sawatzki, Hildegard \| Cooper, David N.	2021		http://purl.org/ontology/bibo/Article
The fetus in the age of the genome 2021 . , Dagmar \| Henn, Wolfram	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
A NFAT decoy approach to inhibit cardiac hypertrophy 2021 . Heineke, Joerg	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
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
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies 2020 . Lessel, Ivana \| Chen, Mei-Jan \| Lüttgen, Sabine \| Arndt, Florian \| Fuchs, Sigrid \| Meien, Stefanie \| Thiele, Holger \| Jones, Julie R. \| Shaw, Brandon R. \| Crossman, David K. \| Nürnberg, Peter \| Korf, Bruce R. \| Kubisch, Christian \| Lessel, Davor	2020		http://purl.org/ontology/bibo/Article
The role of Treg subtypes in glomerulonephritis 2020 . Herrnstadt, G. R. \| Steinmetz, Oliver	2020		http://purl.org/ontology/bibo/Article

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