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Human Mutation|March 25, 1999
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. OnlineM Ebhardt, H Schmidt, T Doerk, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|April 1, 1989
[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis]F K Trefz, U Lichter-Konecki, M Krawczak, et al.
Human Genetics|January 1, 1985
Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IXB Zoll, J Arnemann, M Krawczak, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|June 9, 2005
Beta-sarcoglycan gene mutations in TurkeyB Balci, E Wilichowski, G Haliloğlu, et al.
Biology of Reproduction|May 30, 2003
Generation and characterization of a transgenic mouse with a functional human TSPYS Schubert, B Skawran, F Dechend, et al.
Human Mutation|July 20, 2001
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndromeJ M Hertz, I Juncker, U Persson, et al.
Epilepsia|September 1, 1994
Severe hepatotoxicity during valproate therapy: an update and report of eight new fatalitiesS A König, H Siemes, F Bläker, et al.
Neuropediatrics|March 6, 2004
CNS disease as the main manifestation of hemophagocytic lymphohistiocytosis in two childrenK Rostasy, R Kolb, D Pohl, et al.
American Journal of Human Genetics|December 1, 1987
Segregation of all four major fibrillar collagen genes in the Marfan syndromeD J Ogilvie, B P Wordsworth, L M Priestley, et al.
Emerging Infectious Diseases|July 31, 2012
Population diversity among Bordetella pertussis isolates, United States, 1935-2009Amber J Schmidtke, Kathryn O Boney, Stacey W Martin, et al.
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