Showing results (1-10 of 61) with videos related to
Sort By:
Pageof 7
Ugeskrift for Laeger|March 29, 2003
[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]Marianne SchwartzBiochemical and Biophysical Research Communications|October 3, 2003
New patterns of inheritance in mitochondrial diseaseMarianne Schwartz, John VissingJournal of the Neurological Sciences|February 5, 2004
No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutationsMarianne Schwartz, John VissingUgeskrift for Laeger|March 11, 2003
[Use of molecular biological methods in invasive prenatal genetic diagnosis]Claes Lundsteen, Marianne SchwartzGenetic Testing|February 3, 2005
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification methodMarianne Schwartz, Morten DunøCase Reports in Genetics|October 18, 2012
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 GeneGuy Massa, Philippe Gillis, Marianne SchwartzAnnals of Human Genetics|February 22, 2005
dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutationsLinea Melchior, Marianne Schwartz, Morten DunoAnnals of Neurology|April 25, 2006
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in DenmarkMarie-Louise Sveen, Marianne Schwartz, John VissingMolecular Vision|November 6, 2007
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish populationThomas Rosenberg, Flemming Klie, Peter Garred, et al.Annals of Human Genetics|May 28, 2009
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle diseaseMorten Duno, Ros Quinlivan, John Vissing, et al.Pageof 7