Diagnosis and treatment of inherited thrombocytopenias
Molecular basis of inherited thrombocytopenias
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders
Practical considerations in the clinical application of whole-exome sequencing
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
Diagnostic pitfall in antenatal manifestations of CPT II deficiency
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family
Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?
Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2
Are physicians prepared for whole genome sequencing? a qualitative analysis
Measuring genetic knowledge: a brief survey instrument for adolescents and adults
Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs
Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction
Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life
Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics
Sixteenth-century German woodcut of a male infant with possible disorganization
NAPB – a novel SNARE-associated protein for early-onset epileptic encephalopathy