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Dr. med. Miriam Reuter
List of publications:
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Institute of Human Genetics
Publications
(15)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016)
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al.
Journal article
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2015)
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, Van Bokhoven H, Van Den Boogaard MJH, et al.
Journal article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders (2014)
Reuter M, Sass JO, Leis T, Koehler J, Mayr JA, Feichtinger RG, Rauh M, et al.
Journal article
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration (2014)
Schaffer AE, Eggens VRC, Caglayan AO, Reuter M, Scott E, Coufal NG, Silhavy JL, et al.
Journal article
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations (2014)
Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange DK, Mortenson M, et al.
Journal article
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