Lisbeth Birk Møller - JoVE Visualize

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International Journal of Molecular Sciences|February 12, 2021

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like CellsCaroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, et al.

Nature Structural & Molecular Biology|December 10, 2013

Copper-transporting P-type ATPases use a unique ion-release pathwayMagnus Andersson, Daniel Mattle, Oleg Sitsel, et al.

Acta Paediatrica (Oslo, Norway : 1992)|November 11, 2005

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuriaH Serap Kalkanoğlu, Kirsten K Ahring, Durdu Sertkaya, et al.

Human Mutation|January 16, 2007

Low proportion of whole exon deletions causing phenylketonuria in Denmark and GermanyLisbeth Birk Møller, Anders O H Nygren, Patrick Scott, et al.

Pediatrics|June 20, 2012

Neonatal erythroderma as a first manifestation of Menkes diseaseJavier Galve, Asunción Vicente, María Antonia González-Enseñat, et al.

Stem Cell Research|October 13, 2018

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insTCaroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, et al.

JIMD Reports|February 23, 2013

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.

Stem Cell Research|August 25, 2018

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>CCaroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, et al.

Nutrients|October 16, 2024

Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without AnemiaAnnette Burkhart, Kasper Bendix Johnsen, Tina Skjørringe, et al.

Frontiers in Neurology|September 19, 2022

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 yearsFrederik Teicher Kirk, Ditte Emilie Munk, Jakob Ek, et al.

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Showing results (41-50 of 63) with videos related to

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International Journal of Molecular Sciences|February 12, 2021

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like CellsCaroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, et al.

Nature Structural & Molecular Biology|December 10, 2013

Copper-transporting P-type ATPases use a unique ion-release pathwayMagnus Andersson, Daniel Mattle, Oleg Sitsel, et al.

Acta Paediatrica (Oslo, Norway : 1992)|November 11, 2005

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuriaH Serap Kalkanoğlu, Kirsten K Ahring, Durdu Sertkaya, et al.

Human Mutation|January 16, 2007

Low proportion of whole exon deletions causing phenylketonuria in Denmark and GermanyLisbeth Birk Møller, Anders O H Nygren, Patrick Scott, et al.

Pediatrics|June 20, 2012

Neonatal erythroderma as a first manifestation of Menkes diseaseJavier Galve, Asunción Vicente, María Antonia González-Enseñat, et al.

Stem Cell Research|October 13, 2018

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insTCaroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, et al.

JIMD Reports|February 23, 2013

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.

Stem Cell Research|August 25, 2018

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>CCaroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, et al.

Nutrients|October 16, 2024

Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without AnemiaAnnette Burkhart, Kasper Bendix Johnsen, Tina Skjørringe, et al.

Frontiers in Neurology|September 19, 2022

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 yearsFrederik Teicher Kirk, Ditte Emilie Munk, Jakob Ek, et al.

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