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S Mancini

Showing results (271-280 of 347) with videos related to

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The EMBO Journal|April 22, 2015
USP18 lack in microglia causes destructive interferonopathy of the mouse brainTobias Goldmann, Nicolas Zeller, Jenni Raasch, et al.
Cell Reports|November 1, 2025
The ER thioredoxin-related transmembrane protein TMX2 controls redox-mediated tethering of ER-mitochondria contactsJunsheng Chen, Megan C Yap, Arthur Bassot, et al.
Molecular Syndromology|October 30, 2010
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1AR Oegema, A de Klein, A J Verkerk, et al.
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
Journal of Endocrinological Investigation|November 1, 2022
Short-term physical exercise controls age-related hyperinsulinemia and improves hepatic metabolism in aged rodentsV R Muñoz, R C Gaspar, M C S Mancini, et al.
European Journal of Medical Genetics|December 7, 2007
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y Kroes, Patrick H A van Zon, Dietje Fransen van de Putte, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
Neurogenetics|July 3, 2017
Male patients affected by mosaic PCDH19 mutations: five new casesI M de Lange, P Rump, R F Neuteboom, et al.
Pageof 35

Showing results (271-280 of 347) with videos related to

Sort By:
Pageof 35
The EMBO Journal|April 22, 2015
USP18 lack in microglia causes destructive interferonopathy of the mouse brainTobias Goldmann, Nicolas Zeller, Jenni Raasch, et al.
Cell Reports|November 1, 2025
The ER thioredoxin-related transmembrane protein TMX2 controls redox-mediated tethering of ER-mitochondria contactsJunsheng Chen, Megan C Yap, Arthur Bassot, et al.
Molecular Syndromology|October 30, 2010
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1AR Oegema, A de Klein, A J Verkerk, et al.
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Human Mutation|July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney DiseaseJulia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
Journal of Endocrinological Investigation|November 1, 2022
Short-term physical exercise controls age-related hyperinsulinemia and improves hepatic metabolism in aged rodentsV R Muñoz, R C Gaspar, M C S Mancini, et al.
European Journal of Medical Genetics|December 7, 2007
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y Kroes, Patrick H A van Zon, Dietje Fransen van de Putte, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
Neurogenetics|July 3, 2017
Male patients affected by mosaic PCDH19 mutations: five new casesI M de Lange, P Rump, R F Neuteboom, et al.
Pageof 35