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Executive and social functioning in early- and continuously-treated patients with PKU: A follow-up study 10 years later

The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…

DNA testing for BRCA1/2 in breast cancer patients prior to genetic counseling: DNA-direct

Optimalisation of genetic counseling for patients with breast cancer, by also making use of other ways to provide information than the personal consultation.

Newborn screening outcomes of mixed blessing

In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…

Hereditary breast cancer and the clinical significance of variants in the BRCA1 and BRCA2 genes.

1. Developing novel approaches to determine the clinical significance of UVs. 2. Developing new clinical guidelines and implement them into clinical practice.

Executive and social functioning in patients with Tyrosinemia Type 1

Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…