Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Por Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.
Publicado no Clin Dysmorphol (2016)

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Por Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita
Publicado em 2009

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Por Christiansen, Michael, Hedley, Paula L, Theilade, Juliane, Stoevring, Birgitte, Leren, Trond P, Eschen, Ole, Sørensen, Karina M, Tybjærg-Hansen, Anne, Ousager, Lilian B, Pedersen, Lisbeth N, Frikke-Schmidt, Ruth, Aidt, Frederik H, Hansen, Michael G, Hansen, Jim, Bloch Thomsen, Poul E, Toft, Egon, Henriksen, Finn L, Bundgaard, Henning, Jensen, Henrik K, Kanters, Jørgen K
Publicado em 2014