European Journal of Human Genetics
Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (80)
Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgaris (2019)
Hüffmeier U, Löhr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, et al.
Conference contribution
The functional consequences of SCN2A mutations determine the phenotype (2019)
Begemann A, Acuna M, Zweier M, Sticht H, Steindl K, Besnard M, Hackenberg A, et al.
Conference contribution
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2019)
Rappold GA, Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al.
Conference contribution
Patient views on research use of clinical data without consent: Legal, but also acceptable? (2019)
Richter G, Borzikowsky C, Lieb W, Schreiber S, Krawczak M, Buyx A
Journal article
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.
Journal article
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study (2019)
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, et al.
Journal article
Assessment of genetic variant burden in epilepsy-associated brain lesions (2019)
Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, et al.
Journal article
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature (2019)
Hauer N, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, et al.
Journal article
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2018)
Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, Weiss B, et al.
Journal article
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018)
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, et al.
Journal article