Human genetics

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

Publications (16)

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Journal article
Unpublished / Preprint

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Abstract

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk (2015) Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, 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 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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