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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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Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery (2015)
Dimova V, Loetsch J, Hühne K, Winterpacht A, Heesen M, Parthum A, Weber PG, et al.
Journal article
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 (2015)
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, et al.
Journal article
Pattern of Functional TTX-Resistant Sodium Channels Reveals a Developmental Stage of Human iPSC- and ESC-Derived Nociceptors (2015)
Eberhardt E, Havlicek S, Schmidt D, Link A, Neacsu C, Kohl Z, Hampl M, et al.
Journal article
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects (2015)
Hoffjan S, Epplen JT, Reis A, Abou Jamra R
Journal article
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection (2015)
Omilusik KD, Best JA, Yu B, Goossens S, Weidemann A, Nguyen JV, Seuntjens E, et al.
Journal article
Adult neurogenesis in neurodegenerative diseases (2015)
Winner B, Winkler J
Journal article
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients (2015)
Moessner R, Frambach Y, Wilsmann-Theis D, Loehr S, Jacobi A, Weyergraf A, Mueller M, et al.
Journal article
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015)
Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al.
Journal article
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus (2015)
Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, et al.
Journal article
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome (2015)
Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, et al.
Journal article
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