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Julie Steffann

Showing results (51-60 of 71) with videos related to

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Human Molecular Genetics|February 8, 2013
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesisSophie Monnot, David C Samuels, Laetitia Hesters, et al.
Clinical Genetics|September 14, 2020
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?Aude Tessier, Lucile Boutaud, Ange-Line Bruel, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
F&S Science|May 13, 2022
A fertilin-derived peptide improves in vitro maturation and ploidy of human oocytesAmira Sallem, Anne-Lyse Denizot, Ahmed Ziyyat, et al.
Journal of Medical Genetics|July 30, 2017
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disordersPauline Vachin, Elodie Adda-Herzog, Gihad Chalouhi, et al.
Journal of Clinical Immunology|May 8, 2023
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic optionsMarco M Rodari, Dominique Cazals-Hatem, Mathieu Uzzan, et al.
Neurogenetics|October 18, 2016
Recurrent KIF2A mutations are responsible for classic lissencephalyMara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, et al.
Journal of Inherited Metabolic Disease|May 20, 2021
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohortStephanie Gobin-Limballe, Chris Ottolenghi, Fabien Reyal, et al.
The Journal of Allergy and Clinical Immunology|March 3, 2017
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmentiElodie Bal, Emmanuel Laplantine, Yamina Hamel, et al.
F&S Science|May 13, 2022
Cyclic fertilin-derived peptide stimulates in vitro human embryo developmentAnne-Lyse Denizot, Audrey L'Hostis, Amira Sallem, et al.
Pageof 8

Showing results (51-60 of 71) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|February 8, 2013
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesisSophie Monnot, David C Samuels, Laetitia Hesters, et al.
Clinical Genetics|September 14, 2020
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?Aude Tessier, Lucile Boutaud, Ange-Line Bruel, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
F&S Science|May 13, 2022
A fertilin-derived peptide improves in vitro maturation and ploidy of human oocytesAmira Sallem, Anne-Lyse Denizot, Ahmed Ziyyat, et al.
Journal of Medical Genetics|July 30, 2017
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disordersPauline Vachin, Elodie Adda-Herzog, Gihad Chalouhi, et al.
Journal of Clinical Immunology|May 8, 2023
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic optionsMarco M Rodari, Dominique Cazals-Hatem, Mathieu Uzzan, et al.
Neurogenetics|October 18, 2016
Recurrent KIF2A mutations are responsible for classic lissencephalyMara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, et al.
Journal of Inherited Metabolic Disease|May 20, 2021
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohortStephanie Gobin-Limballe, Chris Ottolenghi, Fabien Reyal, et al.
The Journal of Allergy and Clinical Immunology|March 3, 2017
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmentiElodie Bal, Emmanuel Laplantine, Yamina Hamel, et al.
F&S Science|May 13, 2022
Cyclic fertilin-derived peptide stimulates in vitro human embryo developmentAnne-Lyse Denizot, Audrey L'Hostis, Amira Sallem, et al.
Pageof 8