Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized
by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined …

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological
processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are …

This paper shows speedups attained by using computer graphics hardware for
implementation of computer vision algorithms by efficiently mapping mathematical …

Many neurodegenerative disorders present with sensory loss. In the group of hereditary
sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To …

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by
coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis …

Approximately 25–30% of colorectal cancer (CRC) cases are expected to result from a
genetic predisposition, but in only 5–10% of these cases highly penetrant germline …

Candida vaginitis is a frequent clinical diagnosis with up to 8% of women experiencing
recurrent vulvovaginal candidiasis (RVVC) globally. RVVC is characterized by at least three …

The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a
crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all …

Prostate cancer is one of the most heritable human cancers. Genome-wide association
studies have identified at least 185 prostate cancer germline risk alleles, most noncoding …

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of
bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the …