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Rodrigo Tzovenos Starosta

Showing results (1-10 of 20) with videos related to

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Neoreviews|November 30, 2022
Primary Mitochondrial Disorders in the NeonateRodrigo Tzovenos Starosta, Marwan Shinawi
Jornal Brasileiro De Nefrologia|August 11, 2018
The specific impact of uremic toxins upon cognitive domains: a reviewÁlvaro de Oliveira Franco, Rodrigo Tzovenos Starosta, Matheus Roriz-Cruz
Autopsy & Case Reports|November 8, 2016
Misdiagnosis of <i>Streptococcus gallolyticus</i> endocarditisRodrigo Tzovenos Starosta, Raquel Rivero, Francine Hehn de Oliveira, et al.
European Journal of Medical Genetics|May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotypeRodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 24, 2021
Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel, et al.
Blood Cells, Molecules & Diseases|July 9, 2021
Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatmentLivia d'Ávila Paskulin, Rodrigo Tzovenos Starosta, Débora Bertholdo, et al.
Molecular Genetics and Metabolism|November 14, 2020
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotypeAlejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, et al.
Genes|January 23, 2024
Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria SyndromeMatheus V M B Wilke, Myra Wick, Tanya L Schwab, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
Journal of Inherited Metabolic Disease|October 10, 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotypeIbrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Neoreviews|November 30, 2022
Primary Mitochondrial Disorders in the NeonateRodrigo Tzovenos Starosta, Marwan Shinawi
Jornal Brasileiro De Nefrologia|August 11, 2018
The specific impact of uremic toxins upon cognitive domains: a reviewÁlvaro de Oliveira Franco, Rodrigo Tzovenos Starosta, Matheus Roriz-Cruz
Autopsy & Case Reports|November 8, 2016
Misdiagnosis of <i>Streptococcus gallolyticus</i> endocarditisRodrigo Tzovenos Starosta, Raquel Rivero, Francine Hehn de Oliveira, et al.
European Journal of Medical Genetics|May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotypeRodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 24, 2021
Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel, et al.
Blood Cells, Molecules & Diseases|July 9, 2021
Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatmentLivia d'Ávila Paskulin, Rodrigo Tzovenos Starosta, Débora Bertholdo, et al.
Molecular Genetics and Metabolism|November 14, 2020
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotypeAlejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, et al.
Genes|January 23, 2024
Nuclear Abnormalities in <i>LMNA</i> p.(Glu2Lys) Variant Segregating with <i>LMNA</i>-Associated Cardiocutaneous Progeria SyndromeMatheus V M B Wilke, Myra Wick, Tanya L Schwab, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
Journal of Inherited Metabolic Disease|October 10, 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotypeIbrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, et al.
Pageof 2