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JIMD Reports
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November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature
Zhen 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 medicine
Shamima Rahman, Matthias Baumgartner, Eva Morava, et al.
Proteomics
|
March 12, 2024
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts
Rohit 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 disease
Shamima Rahman, Marc Patterson, Verena Peters, et al.
Pediatric Research
|
September 22, 2006
Influence of genetic polymorphisms on bone disease of preterm infants
Simone Funke, Eva Morava, Márta Czakó, et al.
JIMD Reports
|
September 11, 2015
Causes of Death in Adults with Mitochondrial Disease
Marlieke 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 syndrome
Eva Morava, Marta Czakó, Judit Kárteszi, et al.
Journal of Inherited Metabolic Disease
|
June 21, 2006
Dietary intervention and oxidative phosphorylation capacity
Eva 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 patents
Maria 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.
Page
of 36
Search research articles
Search
Showing results (71-80 of 355) with videos related to
Sort By:
Page
of 36
JIMD Reports
|
November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature
Zhen 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 medicine
Shamima Rahman, Matthias Baumgartner, Eva Morava, et al.
Proteomics
|
March 12, 2024
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts
Rohit 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 disease
Shamima Rahman, Marc Patterson, Verena Peters, et al.
Pediatric Research
|
September 22, 2006
Influence of genetic polymorphisms on bone disease of preterm infants
Simone Funke, Eva Morava, Márta Czakó, et al.
JIMD Reports
|
September 11, 2015
Causes of Death in Adults with Mitochondrial Disease
Marlieke 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 syndrome
Eva Morava, Marta Czakó, Judit Kárteszi, et al.
Journal of Inherited Metabolic Disease
|
June 21, 2006
Dietary intervention and oxidative phosphorylation capacity
Eva 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 patents
Maria 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.
Page
of 36