Medical genetics and Pharmagenomics Publications

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question.
When the neurodevelopmental disorder has a genetic cause: Kleefstra syndrome
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Therapeutic application of allele-specific silencing by siRNA for gene duplication disorders: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
Pharmacogenetic determinants of kidney-associated urinary and serum abnormalities in antiretroviral-treated HIV-positive patients
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia