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European Journal of Human Genetics : EJHG|May 26, 2011
Clinical presentation and mutations in Danish patients with Wilson diseaseLisbeth Birk Møller, Nina Horn, Tina Dysgaard Jeppesen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2005
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infectionsKatharina Diepold, Barbara Schütz, Kevin Rostasy, et al.
European Journal of Pediatrics|February 24, 2010
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28William Reardon, Veronica Donoghue, Anne-Marie Murphy, et al.
Human Mutation|June 28, 2005
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7ALisbeth Birk Møller, Jens Thostrup Bukrinsky, Anne Mølgaard, et al.
Molecular Genetics and Metabolism|October 9, 2013
A silent nucleotide substitution in the ATP7A gene in a child with Menkes diseaseLisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, et al.
Nature|July 1, 2011
Crystal structure of a copper-transporting PIB-type ATPasePontus Gourdon, Xiang-Yu Liu, Tina Skjørringe, et al.
Prenatal Diagnosis|July 29, 2005
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiencyLisbeth Birk Møller, Anne Romstad, Marianne Paulsen, et al.
Genes|January 15, 2021
Elevated Expression of <i>SLC6A4</i> Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette SyndromeMathis Hildonen, Amanda M Levy, Christina Dahl, et al.
Stem Cell Research|November 25, 2019
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variantCaroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, et al.
Cerebellum (London, England)|May 12, 2016
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar AtaxiaSuzanne Granhøj Lindquist, Lisbeth Birk Møller, Christine I Dali, et al.
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