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1. Nonsurgical Strategies in Patients With NET Liver Metastases: A Protocol of Four Systematic Reviews

2. Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

3. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

5. Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

6. A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation

11. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

13. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

14. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

17. Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients

18. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

19. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

23. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

26. Additional file 5 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

27. Additional file 2 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

28. Additional file 4 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

29. Additional file 1 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

30. Additional file 3 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

31. Leigh Syndrome Associated with TRMU Gene Mutations

32. Datasets describing the introduction of the high-sensitive troponin in the emergency department

33. Leigh syndrome associated with TRMU gene mutations

37. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

46. Non-cardiac chest pain patients in the emergency department: Do physicians have a plan how to diagnose and treat them? A retrospective study

47. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

48. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

50. Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

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