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Siv Fokstuen

Showing results (11-20 of 30) with videos related to

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Prenatal Diagnosis|May 23, 2006
Prenatal diagnostic indicators of paternal uniparental disomy 14Logos Curtis, Eric Antonelli, Yvan Vial, et al.
European Heart Journal. Case Reports|June 18, 2024
Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrestsEmmanuelle Massie, Arnaud Dominati, Sebastian Suchet, et al.
Clinical Genetics|January 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Omar Zgheib, Thomas Rio-Frio, Michel Guipponi, et al.
Clinical Genetics|July 12, 2023
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosageSiv Fokstuen, Lina Quteineh, Valérie M Schwitzgebel, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 1, 2010
Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusionAnne-Laure Rougemont, Periklis Makrythanasis, Vildana Finci, et al.
Neuropediatrics|November 17, 2015
Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good OutcomeJoel Fluss, Jean-Marie Pellegrinelli, Siv Fokstuen, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
Human Mutation|April 15, 2008
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen, Robert Lyle, Analia Munoz, et al.
Journal of Medical Genetics|January 18, 2011
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceSiv Fokstuen, Analia Munoz, Paola Melacini, et al.
Clinical Genetics|September 15, 2025
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 MicroduplicationOmar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|May 23, 2006
Prenatal diagnostic indicators of paternal uniparental disomy 14Logos Curtis, Eric Antonelli, Yvan Vial, et al.
European Heart Journal. Case Reports|June 18, 2024
Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrestsEmmanuelle Massie, Arnaud Dominati, Sebastian Suchet, et al.
Clinical Genetics|January 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Omar Zgheib, Thomas Rio-Frio, Michel Guipponi, et al.
Clinical Genetics|July 12, 2023
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosageSiv Fokstuen, Lina Quteineh, Valérie M Schwitzgebel, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 1, 2010
Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusionAnne-Laure Rougemont, Periklis Makrythanasis, Vildana Finci, et al.
Neuropediatrics|November 17, 2015
Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good OutcomeJoel Fluss, Jean-Marie Pellegrinelli, Siv Fokstuen, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
Human Mutation|April 15, 2008
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen, Robert Lyle, Analia Munoz, et al.
Journal of Medical Genetics|January 18, 2011
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceSiv Fokstuen, Analia Munoz, Paola Melacini, et al.
Clinical Genetics|September 15, 2025
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 MicroduplicationOmar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, et al.
Pageof 3