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Diana Rodriguez

Showing results (161-170 of 193) with videos related to

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Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Molecular Genetics and Metabolism|June 18, 2026
Neuroradiological patterns and prognostic implications in type I Alexander diseaseYlenia Vaia, Filippo Arrigoni, Liat Ben Sira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 16, 2023
Early kinetics of donor-derived cell-free DNA after transplantation predicts renal graft recovery and long-term functionDavid Cucchiari, Elena Cuadrado-Payan, Eva Gonzalez-Roca, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Transplantation Direct|October 17, 2022
Humoral and Cellular Immune Responses After a 3-dose Course of mRNA-1273 COVID-19 Vaccine in Kidney Transplant Recipients: A Prospective Cohort StudyDavid Cucchiari, Natalia Egri, Diana Rodriguez-Espinosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
BMC Geriatrics|February 4, 2018
Standard set of health outcome measures for older personsAsangaedem Akpan, Charlotte Roberts, Karen Bandeen-Roche, et al.
Pageof 20

Showing results (161-170 of 193) with videos related to

Sort By:
Pageof 20
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Molecular Genetics and Metabolism|June 18, 2026
Neuroradiological patterns and prognostic implications in type I Alexander diseaseYlenia Vaia, Filippo Arrigoni, Liat Ben Sira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 16, 2023
Early kinetics of donor-derived cell-free DNA after transplantation predicts renal graft recovery and long-term functionDavid Cucchiari, Elena Cuadrado-Payan, Eva Gonzalez-Roca, et al.
Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Transplantation Direct|October 17, 2022
Humoral and Cellular Immune Responses After a 3-dose Course of mRNA-1273 COVID-19 Vaccine in Kidney Transplant Recipients: A Prospective Cohort StudyDavid Cucchiari, Natalia Egri, Diana Rodriguez-Espinosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
BMC Geriatrics|February 4, 2018
Standard set of health outcome measures for older personsAsangaedem Akpan, Charlotte Roberts, Karen Bandeen-Roche, et al.
Pageof 20