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Maria Daniela D'Agostino

Showing results (1-10 of 16) with videos related to

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Translational Science of Rare Diseases|November 21, 2017
Peroxisome biogenesis disordersCatherine Argyriou, Maria Daniela D'Agostino, Nancy Braverman
Developmental Disabilities Research Reviews|June 26, 2013
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectivesNancy E Braverman, Maria Daniela D'Agostino, Gillian E Maclean
Endocrine Journal|August 31, 2018
Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutationReem Al Argan, Avi Saskin, Ji Wei Yang, et al.
American Journal of Medical Genetics. Part A|December 2, 2023
An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathyAl-Alya AlSabah, Mohammed Alsalmi, Rami Massie, et al.
Journal of Cutaneous Medicine and Surgery|January 27, 2025
The Role of Steroidal Hormones on the Cutaneous Manifestations in Neurofibromatosis Type 1 (NF1): A Systematic ReviewMichelle Le, Rahul Nanda, Santina Conte, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Epilepsia|July 31, 2003
Outcome of surgical treatment in familial mesial temporal lobe epilepsyEliane Kobayashi, Maria Daniela D'Agostino, Iscia Lopes-Cendes, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
Journal of Child Neurology|May 24, 2023
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative StudyPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
Journal of Child Neurology|January 5, 2022
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 PandemicPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Translational Science of Rare Diseases|November 21, 2017
Peroxisome biogenesis disordersCatherine Argyriou, Maria Daniela D'Agostino, Nancy Braverman
Developmental Disabilities Research Reviews|June 26, 2013
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectivesNancy E Braverman, Maria Daniela D'Agostino, Gillian E Maclean
Endocrine Journal|August 31, 2018
Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutationReem Al Argan, Avi Saskin, Ji Wei Yang, et al.
American Journal of Medical Genetics. Part A|December 2, 2023
An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathyAl-Alya AlSabah, Mohammed Alsalmi, Rami Massie, et al.
Journal of Cutaneous Medicine and Surgery|January 27, 2025
The Role of Steroidal Hormones on the Cutaneous Manifestations in Neurofibromatosis Type 1 (NF1): A Systematic ReviewMichelle Le, Rahul Nanda, Santina Conte, et al.
Journal of Child Neurology|November 30, 2018
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseAndrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, et al.
Epilepsia|July 31, 2003
Outcome of surgical treatment in familial mesial temporal lobe epilepsyEliane Kobayashi, Maria Daniela D'Agostino, Iscia Lopes-Cendes, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
Journal of Child Neurology|May 24, 2023
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative StudyPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
Journal of Child Neurology|January 5, 2022
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 PandemicPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
Pageof 2