Human genetics
Journal Abbreviation: HUM GENET
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Springer Verlag (Germany)
Publications (14)
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes (2015)
Bramswig NC, Luedecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, et al.
Journal article
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA (2014)
Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Lu Y, Hein A, 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
Biobanks and the Phantom Public (2011)
Haidan C, Gottweis H, Starkbaum J
Journal article, Original article