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Siv Fokstuen

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

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American Journal of Medical Genetics. Part A|July 7, 2020
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 2, 2011
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuriaSarah B Pierce, Cailyn H Spurrell, Jessica B Mandell, et al.
Swiss Medical Weekly|July 26, 2018
Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practiceArgelia Medeiros Domingo, Stephan Bolliger, Christoph Gräni, et al.
Heart (British Cardiac Society)|March 8, 2023
Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathyNadine Molitor, Daniel Hofer, Tolga Çimen, et al.
Clinical Genetics|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisCaterina Marconi, Laure Lemmens, Frédéric Masclaux, et al.
Open Heart|March 31, 2026
Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy RegistryNina Alissa Schätti, Siv Fokstuen, Argelia Medeiros-Domingo, et al.
Journal of Medical Genetics|March 9, 2017
<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
European Heart Journal|August 12, 2025
Titin-related familial dilated cardiomyopathy: factors associated with disease onsetRenee Johnson, Robert A Fletcher, Stacey Peters, et al.
Pageof 3

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

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
American Journal of Medical Genetics. Part A|July 7, 2020
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 2, 2011
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuriaSarah B Pierce, Cailyn H Spurrell, Jessica B Mandell, et al.
Swiss Medical Weekly|July 26, 2018
Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practiceArgelia Medeiros Domingo, Stephan Bolliger, Christoph Gräni, et al.
Heart (British Cardiac Society)|March 8, 2023
Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathyNadine Molitor, Daniel Hofer, Tolga Çimen, et al.
Clinical Genetics|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisCaterina Marconi, Laure Lemmens, Frédéric Masclaux, et al.
Open Heart|March 31, 2026
Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy RegistryNina Alissa Schätti, Siv Fokstuen, Argelia Medeiros-Domingo, et al.
Journal of Medical Genetics|March 9, 2017
<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
European Heart Journal|August 12, 2025
Titin-related familial dilated cardiomyopathy: factors associated with disease onsetRenee Johnson, Robert A Fletcher, Stacey Peters, et al.
Pageof 3