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Florence Fellmann

Showing results (21-30 of 46) with videos related to

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American Journal of Medical Genetics. Part A|November 26, 2009
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?Alessandra Ferrarini, Maria-Chiara Osterheld, Yvan Vial, et al.
European Journal of Medical Genetics|December 23, 2008
A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossDelphine Feldmann, Cédric Le Maréchal, Laurence Jonard, et al.
BMC Medical Genetics|November 13, 2012
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden deathCarolien H Teirlinck, Faïza Senni, Rajae El Malti, et al.
Plos Pathogens|December 24, 2019
Herpes simplex encephalitis in adult patients with MASP-2 deficiencyStéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
Human Reproduction (Oxford, England)|December 14, 2011
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturationElsa Kichine, Virginie Rozé, Julie Di Cristofaro, et al.
Heart Rhythm|July 5, 2016
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytesDaniel C Pipilas, Christopher N Johnson, Gregory Webster, et al.
European Journal of Human Genetics : EJHG|December 14, 2025
Cascade counselling and testing. Recommendations of the European Society of Human GeneticsGuido de Wert, Carla G van El, Angus Clarke, et al.
Revue Medicale Suisse|July 12, 2017
[Patients with variations of sex development : an example of interdisciplinary care]Franziska Phan-Hug, Cynthia Kraus, Ariane Paoloni-Giacobino, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsGuido de Wert, Wybo Dondorp, Angus Clarke, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|November 26, 2009
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?Alessandra Ferrarini, Maria-Chiara Osterheld, Yvan Vial, et al.
European Journal of Medical Genetics|December 23, 2008
A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossDelphine Feldmann, Cédric Le Maréchal, Laurence Jonard, et al.
BMC Medical Genetics|November 13, 2012
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden deathCarolien H Teirlinck, Faïza Senni, Rajae El Malti, et al.
Plos Pathogens|December 24, 2019
Herpes simplex encephalitis in adult patients with MASP-2 deficiencyStéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
Human Reproduction (Oxford, England)|December 14, 2011
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturationElsa Kichine, Virginie Rozé, Julie Di Cristofaro, et al.
Heart Rhythm|July 5, 2016
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytesDaniel C Pipilas, Christopher N Johnson, Gregory Webster, et al.
European Journal of Human Genetics : EJHG|December 14, 2025
Cascade counselling and testing. Recommendations of the European Society of Human GeneticsGuido de Wert, Carla G van El, Angus Clarke, et al.
Revue Medicale Suisse|July 12, 2017
[Patients with variations of sex development : an example of interdisciplinary care]Franziska Phan-Hug, Cynthia Kraus, Ariane Paoloni-Giacobino, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsGuido de Wert, Wybo Dondorp, Angus Clarke, et al.
Pageof 5