Gene copy number variation and common human disease
The Human Genetics Historical Library
Genetic implications and health consequences following the Chernobyl nuclear accident
A neuronal gene mutation that kills glia
Not identical
A K+ channel that channels neurology to nephrology
Death in CHARGE syndrome after the neonatal period
Implementation of ironXS
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
Stüve–Wiedemann syndrome
Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families?
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation
Sudden death
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
The p.P56S mutation in the VAPB gene is not due to a single founder