Show
Sort by
-
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.46-47 -
Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472 -
Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner's Syndrome
-
Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients
-
Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum