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Human Genetics|July 1, 1997
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria familiesG Lundin, J S Lee, S Thunell, et al.Nature|November 29, 1990
A human XY female with a frame shift mutation in the candidate testis-determining gene SRYR J Jäger, M Anvret, K Hall, et al.Journal of Medical Genetics|July 4, 2001
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the diseaseL Villard, N Lévy, F Xiang, et al.Human Molecular Genetics|May 20, 1999
Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levelsM Eriksson, T Ansved, L Edström, et al.International Journal of Cancer|November 15, 1995
Constitutional and somatic mutations in the WT1 gene in Wilms' tumor patientsA Nordenskjöld, E Friedman, B Sandstedt, et al.Acta Paediatrica (Oslo, Norway : 1992)|February 1, 1996
Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragmentA C Lindgren, U Grandell, E M Ritzén, et al.Developmental Medicine and Child Neurology|December 1, 1995
Parental exposure to hydrocarbons in Prader-Willi syndromeA Akefeldt, M Anvret, U Grandell, et al.Human Genetics|March 1, 1988
DNA linkage analysis of X-linked retinoschisisN Dahl, P Goonewardena, J Chotai, et al.Human Genetics|October 6, 1998
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)P J Svensson, M Anvret, M L Molander, et al.Neuromuscular Disorders : NMD|May 1, 1997
Variation of CTG-repeat number of the DMPK gene in muscle tissueT Ansved, L Edström, U Grandell, et al.Pageof 18