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Orsetta Zuffardi

Showing results (191-200 of 222) with videos related to

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Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Human Genetics|December 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesAldesia Provenzano, Andrea La Barbera, Mirko Scagnet, et al.
European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 11, 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblastsErika Della Mina, Alessandro Borghesi, Hao Zhou, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
British Journal of Haematology|May 27, 2015
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemiaMelissa Mantelli, Maria Antonia Avanzini, Vittorio Rosti, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Pageof 23

Showing results (191-200 of 222) with videos related to

Sort By:
Pageof 23
Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Human Genetics|December 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesAldesia Provenzano, Andrea La Barbera, Mirko Scagnet, et al.
European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 11, 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblastsErika Della Mina, Alessandro Borghesi, Hao Zhou, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
British Journal of Haematology|May 27, 2015
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemiaMelissa Mantelli, Maria Antonia Avanzini, Vittorio Rosti, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Pageof 23