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Egbert Bakker

Showing results (21-30 of 52) with videos related to

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Thrombosis and Haemostasis|May 30, 2006
Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosisA Yaël Nossent, Jeroen C J Eikenboom, Hans L Vos, et al.
Plos One|January 7, 2014
Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasmaJessica M E van den Oever, Sahila Balkassmi, Tim Segboer, et al.
Prenatal Diagnosis|March 14, 2015
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasmaJessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, et al.
American Journal of Medical Genetics. Part A|September 3, 2009
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson diseaseFrederik J Hes, Kamlesh Madan, I Shan Rombout-Liem, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Guidelines for diagnostic next-generation sequencingGert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG|March 8, 2007
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletionJeroen Knijnenburg, Arie van Haeringen, Kerstin B M Hansson, et al.
The Journal of Molecular Diagnostics : JMD|July 12, 2015
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal PlasmaJessica M E van den Oever, Ivonne J H M van Minderhout, Cornelis L Harteveld, et al.
Human Genetics|March 23, 2007
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3Mark B Consugar, Vickie J Kubly, Donna J Lager, et al.
Prenatal Diagnosis|April 21, 2012
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysisMarion Phylipsen, Supawadee Yamsri, Emmely E Treffers, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophyApollonia T J M Helderman-van den Enden, Kamlesh Madan, Martijn H Breuning, et al.
Pageof 6

Showing results (21-30 of 52) with videos related to

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Pageof 6
Thrombosis and Haemostasis|May 30, 2006
Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosisA Yaël Nossent, Jeroen C J Eikenboom, Hans L Vos, et al.
Plos One|January 7, 2014
Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasmaJessica M E van den Oever, Sahila Balkassmi, Tim Segboer, et al.
Prenatal Diagnosis|March 14, 2015
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasmaJessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, et al.
American Journal of Medical Genetics. Part A|September 3, 2009
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson diseaseFrederik J Hes, Kamlesh Madan, I Shan Rombout-Liem, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Guidelines for diagnostic next-generation sequencingGert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG|March 8, 2007
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletionJeroen Knijnenburg, Arie van Haeringen, Kerstin B M Hansson, et al.
The Journal of Molecular Diagnostics : JMD|July 12, 2015
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal PlasmaJessica M E van den Oever, Ivonne J H M van Minderhout, Cornelis L Harteveld, et al.
Human Genetics|March 23, 2007
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3Mark B Consugar, Vickie J Kubly, Donna J Lager, et al.
Prenatal Diagnosis|April 21, 2012
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysisMarion Phylipsen, Supawadee Yamsri, Emmely E Treffers, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophyApollonia T J M Helderman-van den Enden, Kamlesh Madan, Martijn H Breuning, et al.
Pageof 6