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Molecular Genetics and Metabolism|October 13, 2009
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiencyFlemming Skovby, Mette Gaustadnes, S Harvey MuddHuman Mutation|January 6, 2006
Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPsMette Gaustadnes, Torben F Ørntoft, Jens Ledet Jensen, et al.Ugeskrift for Laeger|March 18, 2014
[Genetic screening for mutations enables early diagnosis of pituitary adenomas]Jakob Dal, Mette Gaustadnes, Kurt Kristensen, et al.Scientific Reports|April 29, 2021
Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrumCecilie Ejerskov, Mette Gaustadnes, John R Ostergaard, et al.Human Mutation|July 19, 2002
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatmentMette Gaustadnes, Bridget Wilcken, Jana Oliveriusova, et al.Molecular Genetics and Metabolism|January 12, 2016
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemiaJannie Tanderup Sørensen, Mette Gaustadnes, Sally P Stabler, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 2, 2016
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databasesKristian A Groth, Yskert Von Kodolitsch, Kerstin Kutsche, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2015
Difficulties in diagnosing Marfan syndrome using current FBN1 databasesKristian A Groth, Mette Gaustadnes, Kasper Thorsen, et al.Orphanet Journal of Rare Diseases|December 4, 2015
Prevalence, incidence, and age at diagnosis in Marfan SyndromeKristian A Groth, Hanne Hove, Kasper Kyhl, et al.Journal of Surgical Oncology|January 16, 2019
Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort StudySanne Høxbroe Michaelsen, Marie Juul Ornstrup, Morten Møller Poulsen, et al.Pageof 3