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Julie Steffann

Showing results (21-30 of 71) with videos related to

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Mitochondrion|February 27, 2021
Mitochondrial DNA mutations do not impact early human embryonic developmentKalliopi Chatzovoulou, Anne Mayeur, Nadine Gigarel, et al.
Developmental Medicine and Child Neurology|July 16, 2025
ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndromePauline Planté-Bordeneuve, Claire-Marine Bérat, Sylvain Hanein, et al.
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, <i>MT-TF,</i> pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
Cancers|December 11, 2022
Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to <i>BRCA</i> Pathogenic Variant Carriers?Lucie Laot, Charlotte Sonigo, Julie Nobre, et al.
Molecular Genetics and Metabolism|February 8, 2005
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCRNadine Gigarel, Pierre F Ray, Philippe Burlet, et al.
Fertility and Sterility|September 20, 2005
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophyPhilippe Burlet, Nelly Frydman, Nadine Gigarel, et al.
Reproductive Biomedicine Online|May 18, 2023
Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-upAnne Mayeur, Emmanuelle Benaloun, Jonas Benguigui, et al.
Molecular Genetics and Metabolism|April 15, 2009
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvementE Leshinsky-Silver, Anne-Sophie Lebre, Limor Minai, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
Human Mutation|November 25, 2003
NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer, Sylvain Hanein, Valérie Raclin, et al.
Pageof 8

Showing results (21-30 of 71) with videos related to

Sort By:
Pageof 8
Mitochondrion|February 27, 2021
Mitochondrial DNA mutations do not impact early human embryonic developmentKalliopi Chatzovoulou, Anne Mayeur, Nadine Gigarel, et al.
Developmental Medicine and Child Neurology|July 16, 2025
ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndromePauline Planté-Bordeneuve, Claire-Marine Bérat, Sylvain Hanein, et al.
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, <i>MT-TF,</i> pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
Cancers|December 11, 2022
Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to <i>BRCA</i> Pathogenic Variant Carriers?Lucie Laot, Charlotte Sonigo, Julie Nobre, et al.
Molecular Genetics and Metabolism|February 8, 2005
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCRNadine Gigarel, Pierre F Ray, Philippe Burlet, et al.
Fertility and Sterility|September 20, 2005
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophyPhilippe Burlet, Nelly Frydman, Nadine Gigarel, et al.
Reproductive Biomedicine Online|May 18, 2023
Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-upAnne Mayeur, Emmanuelle Benaloun, Jonas Benguigui, et al.
Molecular Genetics and Metabolism|April 15, 2009
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvementE Leshinsky-Silver, Anne-Sophie Lebre, Limor Minai, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
Human Mutation|November 25, 2003
NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer, Sylvain Hanein, Valérie Raclin, et al.
Pageof 8