Einrichtungen, die zum Universitätsklinikum Erlangen gehören

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Conference contribution CLINICAL AND VIROLOGICAL CHARACTERISTICS AND RETREATMENT OF HCV-INFECTED PATIENTS WITH FAILURE TO MULTIPLE SUBSEQUENT DAA THERAPIES (2019) Dietz J, Vermehren J, Peiffer KH, Wietzke-Braun P, Muellhaupt B, Schattenberg J, Antoni C, et al. Conference contribution Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Conference contribution Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019) Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al. Conference contribution Skeletal defects and defective osteoclast and osteoblast function in Ayme-Gripp syndrome (2019) Niceta M, Del Fattore A, Barbuti D, Rossi M, Stellacci E, Gupta N, Ruggiero C, et al. Conference contribution Whole-exome sequencing and large-scale re-sequencing in nonsyndromic cleft lip with/without cleft palate identify novel susceptibility genes (2019) Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, et al. Conference contribution Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019) Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al. Conference contribution The photopic negative response of the Light-adapted 3.0 ERG in clinical settings (2019) Ortiz G, Drucker D, Hyde C, Staffetti J, Kremers J, Tzekov R Journal article Bile salt subspecies activate MRGX4 expressed on sensory neurons and cause itching in humans (2019) Wolf K, Kühn H, Leibl V, Gebhardt L, Glaudo M, Reeh P, Fischer MJM, et al. Conference contribution Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019) Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al. Conference contribution, Abstract of a poster