Human genetics

Journal Abbreviation: HUM GENET
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Springer Verlag (Germany)

Publications (14)

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Journal article
Unpublished / Preprint

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Abstract

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
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