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Julie Steffann

Showing results (31-40 of 71) with videos related to

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Genes|December 23, 2022
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated PhenotypeLaura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, et al.
Journal of Medical Genetics|January 11, 2017
No correlation between mtDNA amount and methylation levels at the CpG island of <i>POLG</i> exon 2 in wild-type and mutant human differentiated cellsJulie Steffann, Aurore Pouliet, Houda Adjal, et al.
Molecular Genetics and Metabolism|July 3, 2007
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndromeSophie Lebon, Limor Minai, Dominique Chretien, et al.
Human Mutation|March 24, 2009
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiencySophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, et al.
Human Genetics|March 5, 2003
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.
Journal of Assisted Reproduction and Genetics|May 8, 2023
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experienceTraicie Dervin, Noémie Ranisavjevic, Lucie Laot, et al.
Human Reproduction (Oxford, England)|March 23, 2023
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseasesKalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, et al.
Prenatal Diagnosis|May 28, 2004
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmentiJulie Steffann, Valérie Raclin, Asmae Smahi, et al.
Molecular Genetics and Metabolism|July 17, 2017
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia PigmentiVolodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, et al.
Familial Cancer|April 13, 2022
Preimplantation genetic testing in patients with genetic susceptibility to cancerMarie-Charlotte Villy, Nelly Frydman, Céline Moutou, et al.
Pageof 8

Showing results (31-40 of 71) with videos related to

Sort By:
Pageof 8
Genes|December 23, 2022
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated PhenotypeLaura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, et al.
Journal of Medical Genetics|January 11, 2017
No correlation between mtDNA amount and methylation levels at the CpG island of <i>POLG</i> exon 2 in wild-type and mutant human differentiated cellsJulie Steffann, Aurore Pouliet, Houda Adjal, et al.
Molecular Genetics and Metabolism|July 3, 2007
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndromeSophie Lebon, Limor Minai, Dominique Chretien, et al.
Human Mutation|March 24, 2009
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiencySophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, et al.
Human Genetics|March 5, 2003
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.
Journal of Assisted Reproduction and Genetics|May 8, 2023
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experienceTraicie Dervin, Noémie Ranisavjevic, Lucie Laot, et al.
Human Reproduction (Oxford, England)|March 23, 2023
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseasesKalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, et al.
Prenatal Diagnosis|May 28, 2004
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmentiJulie Steffann, Valérie Raclin, Asmae Smahi, et al.
Molecular Genetics and Metabolism|July 17, 2017
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia PigmentiVolodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, et al.
Familial Cancer|April 13, 2022
Preimplantation genetic testing in patients with genetic susceptibility to cancerMarie-Charlotte Villy, Nelly Frydman, Céline Moutou, et al.
Pageof 8