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Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) KU Leuven
Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing ...
Genetica van het chronischevermoeidheidssyndroom Universiteit Antwerpen
In dit artikel wordt een systematisch overzicht gegeven van wat reeds gekend is over de genetische basis van de neuro-endocriene ontregelingen in het chronischevermoeidheidssyndroom (CVS), meer specifiek in het cortisol en het monoaminesysteem. CVS kent een multifactoriële pathogenese. De meest gerepliceerde en consistente bevindingen wijzen op een ontregeling van het neurobiologisch stresssysteem. Daarnaast zijn er aanwijzingen dat de ...
Medische genetica in de klinische praktijk Universiteit Gent
Genética en la cardiopatÃa congénita : ¿estamos preparados? Universiteit Gent
MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS KU Leuven
Despite considerable progress in the genetics of autism spectrum disorder (ASD) in the past decade, molecular diagnostics for patients with ASD remains a great challenge due to the complex genetic architecture of ASD. In clinical genetics, an etiological distinction is usually made between ASD patients with Mendelian causes (i.e. driven by a highly penetrant rare variant) and patients with multifactorial causes (i.e. driven by many genetic ...