Mutation Detection in the Menkes Gene Using the Protein Truncation Test

Por Lisbeth Birk Møller, Nina Horn
Publicado em 2008-01-01

Crosstalk of Hedgehog and mTORC1 Pathways

Por Lasse Jonsgaard Larsen, Lisbeth Birk Møller
Publicado em 2020-10-01

Splice site mutations in the ATP7A gene.

Por Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller
Publicado em 2011-04-01

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Por Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publicado em 2019-12-01

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Por Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Publicado em 2018-08-01