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Guillaume Jedraszak

Showing results (1-10 of 36) with videos related to

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The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 14, 2020
Risk factors for failed chorionic villus sampling: results of a 4-year retrospective studyJulien Chevreau, Lucie Becart, Fabrice Sergent, et al.
Case Reports in Genetics|February 5, 2015
Severe psychomotor delay in a severe presentation of cat-eye syndromeGuillaume Jedraszak, Aline Receveur, Joris Andrieux, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 18, 2022
A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature reviewMathilde Pujalte, Maïté Camo, Noémie Celton, et al.
Gene|February 1, 2021
Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletineAlexis Hermida, Guillaume Jedraszak, Maciej Kubala, et al.
Clinical Chemistry and Laboratory Medicine|May 19, 2026
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive <i>TTR</i> genetic testing for hereditary transthyretin amyloidosisGilles Millat, Kahia Messaoudi, Valérie Chanavat, et al.
Molecular Cytogenetics|June 5, 2015
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literatureGuillaume Jedraszak, Henri Copin, Manuel Demailly, et al.
Gene|December 31, 2025
Case report and literature review of neurodevelopmental syndrome linked to DOT1L variantsAurélien Caux, Florence Jobic, Boris Keren, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|June 15, 2017
Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral centerAnaïs Lavongtheung, Guillaume Jedraszak, Philippe Naepels, et al.
Genes|March 28, 2025
Genetics Investigation of Idiopathic Premature Ovarian Insufficiency: Contribution of Array-CGH and Next-Generation SequencingClaire Cozette, Mathilde Pujalte, Noémie Celton, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
New intragenic rearrangements in non-Finnish mulibrey nanismFlorence Jobic, Gilles Morin, Catherine Vincent-Delorme, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 14, 2020
Risk factors for failed chorionic villus sampling: results of a 4-year retrospective studyJulien Chevreau, Lucie Becart, Fabrice Sergent, et al.
Case Reports in Genetics|February 5, 2015
Severe psychomotor delay in a severe presentation of cat-eye syndromeGuillaume Jedraszak, Aline Receveur, Joris Andrieux, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 18, 2022
A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature reviewMathilde Pujalte, Maïté Camo, Noémie Celton, et al.
Gene|February 1, 2021
Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletineAlexis Hermida, Guillaume Jedraszak, Maciej Kubala, et al.
Clinical Chemistry and Laboratory Medicine|May 19, 2026
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive <i>TTR</i> genetic testing for hereditary transthyretin amyloidosisGilles Millat, Kahia Messaoudi, Valérie Chanavat, et al.
Molecular Cytogenetics|June 5, 2015
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literatureGuillaume Jedraszak, Henri Copin, Manuel Demailly, et al.
Gene|December 31, 2025
Case report and literature review of neurodevelopmental syndrome linked to DOT1L variantsAurélien Caux, Florence Jobic, Boris Keren, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|June 15, 2017
Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral centerAnaïs Lavongtheung, Guillaume Jedraszak, Philippe Naepels, et al.
Genes|March 28, 2025
Genetics Investigation of Idiopathic Premature Ovarian Insufficiency: Contribution of Array-CGH and Next-Generation SequencingClaire Cozette, Mathilde Pujalte, Noémie Celton, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
New intragenic rearrangements in non-Finnish mulibrey nanismFlorence Jobic, Gilles Morin, Catherine Vincent-Delorme, et al.
Pageof 4