Genetic evaluation of suspected osteogenesis imperfecta (OI)

by Byers, Peter H., Krakow, Deborah, Nunes, Mark E., Pepin, Melanie
Published 2006

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations

by Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Published 2013

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

by van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Published 2012

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

by Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Published 2015