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4 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly 2025 . Escalera-Balsera, Alba \| Robles-Bolivar, Paula \| Parra-Perez, Alberto M. \| Murillo-Cuesta, Silvia \| Chua, Han Chow \| Rodríguez-de la Rosa, Lourdes \| Contreras, Julio \| Domarecka, Ewa \| Amor-Dorado, Juan Carlos \| Soto-Varela, Andrés \| Varela-Nieto, Isabel \| Szczepek, Agnieszka J. \| Gallego-Martinez, Alvaro \| Lopez-Escamez, Jose Antonio	2025		http://purl.org/ontology/bibo/Article
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families 2024 . Hussain, Syeda Iqra \| Muhammad, Nazif \| Shah, Shahbaz Ali \| Rehman, Adil u \| Khan, Sher Alam \| Saleha, Shamim \| Khan, Yar Muhammad \| Muhammad, Noor \| Khan, Saadullah \| Wasif, Naveed	2024		http://purl.org/ontology/bibo/Article
Genetic variants in patients with multiple arterial aneurysms 2024 . Körfer, Daniel \| Grond-Ginsbach, Caspar \| Peters, Andreas S. \| Burkart, Sebastian \| Hempel, Maja \| Schaaf, Christian P. \| Böckler, Dittmar \| Erhart, Philipp	2024		http://purl.org/ontology/bibo/Article
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients 2024 . Halik, Adriane \| Tilgner, Marlon \| Silva, Patricia \| Estrada, Natalia \| Altwasser, Robert \| Jahn, Ekaterina \| Heuser, Michael \| Hou, Hsin-An \| Pratcorona, Marta \| Hills, Robert K. \| Metzeler, Klaus H. \| Fenwarth, Laurene \| Dolnik, Anna \| Terre, Christine \| Kopp, Klara \| Blau, Olga \| Szyska, Martin \| Christen, Friederike \| Krönke, Jan \| Vasseur, Loïc \| Löwenberg, Bob \| Esteve, Jordi \| Valk, Peter J. M. \| Duchmann, Matthieu \| Chou, Wen-Chien \| Linch, David C. \| Döhner, Hartmut \| Gale, Rosemary E. \| Döhner, Konstanze \| Bullinger, Lars \| Yoshida, Kenichi \| Damm, Frederik	2024		http://purl.org/ontology/bibo/Article