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Eva Morava

Showing results (71-80 of 355) with videos related to

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JIMD Reports|November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literatureZhen Qian, Jef Van den Eynde, Stephane Heymans, et al.
Journal of Inherited Metabolic Disease|March 1, 2022
Quo vadis now: Beyond genomics to an era of personalised medicineShamima Rahman, Matthias Baumgartner, Eva Morava, et al.
Proteomics|March 12, 2024
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblastsRohit Budhraja, Neha Joshi, Silvia Radenkovic, et al.
Journal of Inherited Metabolic Disease|May 8, 2023
Guidelines in the JIMD: Evidence-based practice for inherited metabolic diseaseShamima Rahman, Marc Patterson, Verena Peters, et al.
Pediatric Research|September 22, 2006
Influence of genetic polymorphisms on bone disease of preterm infantsSimone Funke, Eva Morava, Márta Czakó, et al.
JIMD Reports|September 11, 2015
Causes of Death in Adults with Mitochondrial DiseaseMarlieke Barends, Lotte Verschuren, Eva Morava, et al.
Clinical Dysmorphology|October 18, 2003
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndromeEva Morava, Marta Czakó, Judit Kárteszi, et al.
Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Congenital disorders of glycosylation: narration of a story through its patentsMaria Monticelli, Tania D'Onofrio, Jaak Jaeken, et al.
Journal of Inherited Metabolic Disease|October 1, 2015
Quo vadis: the re-definition of "inborn metabolic diseases"Eva Morava, Shamima Rahman, Verena Peters, et al.
Pageof 36

Showing results (71-80 of 355) with videos related to

Sort By:
Pageof 36
JIMD Reports|November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literatureZhen Qian, Jef Van den Eynde, Stephane Heymans, et al.
Journal of Inherited Metabolic Disease|March 1, 2022
Quo vadis now: Beyond genomics to an era of personalised medicineShamima Rahman, Matthias Baumgartner, Eva Morava, et al.
Proteomics|March 12, 2024
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblastsRohit Budhraja, Neha Joshi, Silvia Radenkovic, et al.
Journal of Inherited Metabolic Disease|May 8, 2023
Guidelines in the JIMD: Evidence-based practice for inherited metabolic diseaseShamima Rahman, Marc Patterson, Verena Peters, et al.
Pediatric Research|September 22, 2006
Influence of genetic polymorphisms on bone disease of preterm infantsSimone Funke, Eva Morava, Márta Czakó, et al.
JIMD Reports|September 11, 2015
Causes of Death in Adults with Mitochondrial DiseaseMarlieke Barends, Lotte Verschuren, Eva Morava, et al.
Clinical Dysmorphology|October 18, 2003
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndromeEva Morava, Marta Czakó, Judit Kárteszi, et al.
Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Orphanet Journal of Rare Diseases|August 29, 2023
Congenital disorders of glycosylation: narration of a story through its patentsMaria Monticelli, Tania D'Onofrio, Jaak Jaeken, et al.
Journal of Inherited Metabolic Disease|October 1, 2015
Quo vadis: the re-definition of "inborn metabolic diseases"Eva Morava, Shamima Rahman, Verena Peters, et al.
Pageof 36