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Michel Guipponi

Showing results (31-40 of 83) with videos related to

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Nature Communications|August 9, 2014
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutationsSergey I Nikolaev, Marco Garieri, Federico Santoni, et al.
Nature Communications|October 5, 2019
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalanceGeorgios Stamoulis, Marco Garieri, Periklis Makrythanasis, et al.
Biochimica Et Biophysica Acta|April 5, 2003
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signalingWendy M Pruitt, Antoine E Karnoub, A Corinne Rakauskas, et al.
Ophthalmology Science|November 28, 2024
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1Ferenc B Sallo, Chantal Dysli, Franz Josef Holzer, et al.
EMBO Molecular Medicine|December 31, 2013
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
American Journal of Medical Genetics. Part A|June 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyEmmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 4, 2008
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behaviorMichel Guipponi, Samuel Deutsch, Karine Kohler, et al.
Pathology|August 19, 2006
Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral bloodWilliam S Stevenson, Rosemary Hoyt, Anthony Bell, et al.
Human Mutation|September 17, 2011
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyAnnick Salzmann, Michel Guipponi, Peter J Lyons, et al.
Pageof 9

Showing results (31-40 of 83) with videos related to

Sort By:
Pageof 9
Nature Communications|August 9, 2014
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutationsSergey I Nikolaev, Marco Garieri, Federico Santoni, et al.
Nature Communications|October 5, 2019
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalanceGeorgios Stamoulis, Marco Garieri, Periklis Makrythanasis, et al.
Biochimica Et Biophysica Acta|April 5, 2003
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signalingWendy M Pruitt, Antoine E Karnoub, A Corinne Rakauskas, et al.
Ophthalmology Science|November 28, 2024
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1Ferenc B Sallo, Chantal Dysli, Franz Josef Holzer, et al.
EMBO Molecular Medicine|December 31, 2013
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Human Mutation|December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
American Journal of Medical Genetics. Part A|June 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyEmmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 4, 2008
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behaviorMichel Guipponi, Samuel Deutsch, Karine Kohler, et al.
Pathology|August 19, 2006
Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral bloodWilliam S Stevenson, Rosemary Hoyt, Anthony Bell, et al.
Human Mutation|September 17, 2011
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyAnnick Salzmann, Michel Guipponi, Peter J Lyons, et al.
Pageof 9