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Julie Steffann

Showing results (11-20 of 71) with videos related to

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American Journal of Medical Genetics. Part A|March 27, 2024
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG geneJulie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, et al.
Expert Review of Molecular Diagnostics|September 9, 2020
Improving post-natal detection of mitochondrial DNA mutationsGiulia Barcia, Zahra Assouline, Maryse Magen, et al.
Human Genetics|December 16, 2003
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28Nadine Gigarel, Nelly Frydman, Philippe Burlet, et al.
American Journal of Medical Genetics. Part A|June 10, 2022
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenitaMathilde Weber, Dana Jaber, Ferechte Encha-Razavi, et al.
Fertility and Sterility|November 1, 2006
Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cyclesEstelle Feyereisen, Julie Steffann, Serge Romana, et al.
Bulletin De L'Academie Nationale De Medecine|March 2, 2012
[Extending preimplantation genetic diagnosis to HLA typing: the French exception]Julie Steffann, Nelly Frydman, Philippe Burlet, et al.
Human Reproduction (Oxford, England)|April 2, 2025
Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disordersPaula Rubens, Anne Mayeur, Kalliopi Chatzovoulou, et al.
European Journal of Human Genetics : EJHG|November 12, 2009
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophyPhilippe Burlet, Nadine Gigarel, Maryse Magen, et al.
Molecular Genetics and Metabolism Reports|August 30, 2019
Expanding the clinical spectrum of <i>MTTF</i> mutationsGiulia Barcia, Zahra Assouline, Alessandra Pennisi, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 5, 2009
Preimplantation genetic diagnosis: state of the artClaire Basille, René Frydman, Abdelwahab El Aly, et al.
Pageof 8

Showing results (11-20 of 71) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|March 27, 2024
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG geneJulie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, et al.
Expert Review of Molecular Diagnostics|September 9, 2020
Improving post-natal detection of mitochondrial DNA mutationsGiulia Barcia, Zahra Assouline, Maryse Magen, et al.
Human Genetics|December 16, 2003
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28Nadine Gigarel, Nelly Frydman, Philippe Burlet, et al.
American Journal of Medical Genetics. Part A|June 10, 2022
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenitaMathilde Weber, Dana Jaber, Ferechte Encha-Razavi, et al.
Fertility and Sterility|November 1, 2006
Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cyclesEstelle Feyereisen, Julie Steffann, Serge Romana, et al.
Bulletin De L'Academie Nationale De Medecine|March 2, 2012
[Extending preimplantation genetic diagnosis to HLA typing: the French exception]Julie Steffann, Nelly Frydman, Philippe Burlet, et al.
Human Reproduction (Oxford, England)|April 2, 2025
Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disordersPaula Rubens, Anne Mayeur, Kalliopi Chatzovoulou, et al.
European Journal of Human Genetics : EJHG|November 12, 2009
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophyPhilippe Burlet, Nadine Gigarel, Maryse Magen, et al.
Molecular Genetics and Metabolism Reports|August 30, 2019
Expanding the clinical spectrum of <i>MTTF</i> mutationsGiulia Barcia, Zahra Assouline, Alessandra Pennisi, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 5, 2009
Preimplantation genetic diagnosis: state of the artClaire Basille, René Frydman, Abdelwahab El Aly, et al.
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