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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
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Publications
(506)
Research Grants
(9)
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Journal article
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021)
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al.
Journal article
Genome sequencing in families with congenital limb malformations (2021)
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al.
Journal article
A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine (2021)
Bach C, Knaup K, Herrmann M, Krumbiegel M, Pfister F, Büttner-Herold M, Steffen M, et al.
Journal article
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021)
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al.
Journal article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021)
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al.
Journal article
Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021)
Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al.
Journal article
Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Journal article
DLG4-related synaptopathy: a new rare brain disorder (2021)
Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al.
Journal article
Crnkl1 is a highly selective regulator of intron-retaining HIV-1 and cellular mrnas (2021)
Xiao H, Wyler E, Milek M, Grewe B, Kirchner P, Ekici AB, Silva ABOV, et al.
Journal article
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021)
Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C
Journal article
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