Livro Branco das Doenças Raras e dos Medicamentos Órfãos
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
CANCER SURVEILLANCE GUIDELINE FOR INDIVIDUALS WITH PTEN HAMARTOMA TUMOUR SYNDROME (PHTS)
REGULAMENTO (UE) 2017/746 DO PARLAMENTO EUROPEU E DO CONSELHO de 5 de abril de 2017
Guidelines for diagnostic next-generation sequencing
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
Is Molecular Cytogenetic Diagnostics of Rare Diseases in Europe Close to Extinction
European guidelines for constitutional cytogenomic analysis
General Guidelines and Quality Assurance for cytogenetics
Recommendations for reporting results of diagnostic genetic testing ejhg_2014
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications revision 2013
American College of Medical Genetics and Genomics technical standards and guidelines microarray analysis for chromosome abnormalities in neoplastic disorders
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome 2015