Skip to ContentSkip to Navigation
Over ons Praktische zaken Waar vindt u ons dr. ir. H.H. Lemmink

Publicaties

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Multigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: Analysis of clinical outcome and tumour characteristics in the Dutch EB Registry

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Pers/media

Asuragen’s Lab Test Can Speed Up Diagnosis of SMA Carriers, Patients