Nuclear magnetic resonance studies of biologically relevant isotopes other than hydrogen

The incremental risk of fragility fractures in aging men.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2023

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Clinical genetics·2017

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Clinical genetics·2017

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Clinical genetics·2016

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life.

Clinical genetics·2014