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Lisbeth Birk Møller

Showing results (11-20 of 63) with videos related to

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Ugeskrift for Laeger|March 14, 2018
[The first Danish patient with a recognisable genetic KBG syndrome]Allan Bayat, Lisbeth Birk Møller, Tina Duelund Hjortshøj
Life Science Alliance|August 26, 2024
mTORC1 hampers Hedgehog signaling in <i>Tsc2</i> deficient cellsLasse Jonsgaard Larsen, Elsebet Østergaard, Lisbeth Birk Møller
Stem Cell Research|December 16, 2023
Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456Lasse Jonsgaard Larsen, Lena Elisabeth Hjermind, Lisbeth Birk Møller
American Journal of Medical Genetics. Part A|October 14, 2005
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestationsLisbeth Birk Møller, Peter Ott, Connie Lund, et al.
Plos One|March 30, 2011
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assaysLena Poulsen, Martin Jensen Søe, Lisbeth Birk Møller, et al.
Journal of Inorganic Biochemistry|November 2, 2018
Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right timeNina Horn, Lisbeth Birk Møller, Valeria Marina Nurchi, et al.
Genes|February 25, 2023
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in <i>PRPF31</i>-Associated Retinitis Pigmentosa in a Danish CohortKristian Lisbjerg, Karen Grønskov, Mette Bertelsen, et al.
Frontiers in Molecular Neuroscience|May 10, 2021
Occipital Horn Syndrome as a Result of Splice Site Mutations in <i>ATP7A</i>. No Activity of <i>ATP7A</i> Splice Variants Missing Exon 10 or Exon 15Lisbeth Birk Møller, Mie Mogensen, David D Weaver, et al.
Plos One|July 21, 2012
Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)Małgorzata Lenartowicz, Wojciech Krzeptowski, Paweł Koteja, et al.
Nucleic Acids Research|September 23, 2008
Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surfaceLena Poulsen, Martin Jensen Søe, Detlef Snakenborg, et al.
Pageof 7

Showing results (11-20 of 63) with videos related to

Sort By:
Pageof 7
Ugeskrift for Laeger|March 14, 2018
[The first Danish patient with a recognisable genetic KBG syndrome]Allan Bayat, Lisbeth Birk Møller, Tina Duelund Hjortshøj
Life Science Alliance|August 26, 2024
mTORC1 hampers Hedgehog signaling in <i>Tsc2</i> deficient cellsLasse Jonsgaard Larsen, Elsebet Østergaard, Lisbeth Birk Møller
Stem Cell Research|December 16, 2023
Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456Lasse Jonsgaard Larsen, Lena Elisabeth Hjermind, Lisbeth Birk Møller
American Journal of Medical Genetics. Part A|October 14, 2005
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestationsLisbeth Birk Møller, Peter Ott, Connie Lund, et al.
Plos One|March 30, 2011
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assaysLena Poulsen, Martin Jensen Søe, Lisbeth Birk Møller, et al.
Journal of Inorganic Biochemistry|November 2, 2018
Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right timeNina Horn, Lisbeth Birk Møller, Valeria Marina Nurchi, et al.
Genes|February 25, 2023
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in <i>PRPF31</i>-Associated Retinitis Pigmentosa in a Danish CohortKristian Lisbjerg, Karen Grønskov, Mette Bertelsen, et al.
Frontiers in Molecular Neuroscience|May 10, 2021
Occipital Horn Syndrome as a Result of Splice Site Mutations in <i>ATP7A</i>. No Activity of <i>ATP7A</i> Splice Variants Missing Exon 10 or Exon 15Lisbeth Birk Møller, Mie Mogensen, David D Weaver, et al.
Plos One|July 21, 2012
Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)Małgorzata Lenartowicz, Wojciech Krzeptowski, Paweł Koteja, et al.
Nucleic Acids Research|September 23, 2008
Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surfaceLena Poulsen, Martin Jensen Søe, Detlef Snakenborg, et al.
Pageof 7