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Julie Steffann

Showing results (41-50 of 71) with videos related to

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Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
Journal of Assisted Reproduction and Genetics|December 21, 2024
Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1Charlotte Sonigo, Noémie Ranisavljevic, Mathilde Guigui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersJulie Steffann, Sophie Monnot, Maryse Magen, et al.
European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.
Bulletin De L'Academie Nationale De Medecine|March 2, 2012
[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions]René Frydman, Nelly Achour-Frydman, Julie Steffann, et al.
Nature Genetics|April 16, 2002
Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey B Gabriel, Rémi Salomon, Anna Pelet, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
American Journal of Human Genetics|April 9, 2011
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humansNadine Gigarel, Laetitia Hesters, David C Samuels, et al.
Human Mutation|December 2, 2010
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model systemSophie Monnot, Nadine Gigarel, David C Samuels, et al.
Journal of Medical Genetics|January 12, 2020
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndromeChaker Aloui, Stéphanie Guey, Eva Pipiras, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
Journal of Assisted Reproduction and Genetics|December 21, 2024
Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1Charlotte Sonigo, Noémie Ranisavljevic, Mathilde Guigui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersJulie Steffann, Sophie Monnot, Maryse Magen, et al.
European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.
Bulletin De L'Academie Nationale De Medecine|March 2, 2012
[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions]René Frydman, Nelly Achour-Frydman, Julie Steffann, et al.
Nature Genetics|April 16, 2002
Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey B Gabriel, Rémi Salomon, Anna Pelet, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
American Journal of Human Genetics|April 9, 2011
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humansNadine Gigarel, Laetitia Hesters, David C Samuels, et al.
Human Mutation|December 2, 2010
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model systemSophie Monnot, Nadine Gigarel, David C Samuels, et al.
Journal of Medical Genetics|January 12, 2020
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndromeChaker Aloui, Stéphanie Guey, Eva Pipiras, et al.
Pageof 8