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Personalized medicine – the promised land: are we there yet?
The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services
Dissecting the genes of familial aortic dissections
De novo paradigm: the ultimate answer to the paradox in mental retardation?
Step to CEP152: uncovering a new mutation implicated in Seckel syndrome
Breast cancer after bilateral risk-reducing mastectomy
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype–phenotype correlation
Haplotype sharing test maps genes for familial cardiomyopathies †
Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome
A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22
Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome
Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
A new locus for otosclerosis, OTSC10 , maps to chromosome 1q41–44
Sibling recurrence in intellectual disability of unknown cause