Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

por Herlin, Morten Krogh, Petersen, Michael Bjørn, Brännström, Mats
Publicado 2020

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

por Sheyanth, Inger Norlyk, Højland, Allan Thomas, Okkels, Henrik, Lolas, Ihab, Thorup, Christian, Petersen, Michael Bjørn
Publicado 2021

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

por Sheyanth, Inger Norlyk, Lolas, Ihab Bishara, Okkels, Henrik, Kiruparajan, Ligor Pradeep, Abildgaard, Søren Kromann, Petersen, Michael Bjørn
Publicado 2021

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

por Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne
Publicado 2013