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Springer Science and Business Media LLC

  0340-6717

 

 

Cơ quản chủ quản:  Springer Verlag , SPRINGER

Lĩnh vực:
Genetics (clinical)Genetics

Các bài báo tiêu biểu

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Tập 133 Số 1 - Trang 1-9 - 2014
Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Tập 136 Số 6 - Trang 665-677 - 2017
Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper
The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900
Tập 97 Số 3 - Trang 319-323 - 1996
Anne Maria Herskind, Matthew McGue, Niels V. Holm, Thorkild I. A. Sørensen, B Harvald, James W. Vaupel
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes
Tập 80 Số 3 - Trang 235-246 - 1988
Thomas Cremer, Peter Lichter, Jonathan Borden, David C. Ward, Laura Manuelidis
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
- 2010
Shay Tzur, Saharon Rosset, Revital Shemer, Guennady Yudkovsky, Sara Selig, Ayele Tarekegn, Endashaw Bekele, Neil Bradman, Walter G. Wasser, Doron M. Behar, Karl Skorecki
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
- 1993
Stanislas du Manoir, Michael R. Speicher, Stefan Joos, Evelin Schröck, Susanne Popp, Hartmut Döhner, Gyula Kovács, Michel Robert‐Nicoud, Peter Lichter, Thomas Cremer
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
- 2009
Nathan Pankratz, Jemma B. Wilk, Jeanne C. Latourelle, Anita L. DeStefano, Cheryl Halter, Elizabeth Pugh, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Tatiana Foroud, Richard H. Myers
Elite endurance athletes and the ACE I allele - the role of genes in athletic performance
Tập 103 Số 1 - Trang 48-50 - 1998
George Gayagay, Bing Yu, Brett D. Hambly, Tanya Boston, A. G. Hahn, David S. Celermajer, R. J. Trent