Suchergebnisse - "Mitochondrial disease"

PubPharm (3.091)

51

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

enthalten in: Human molecular genetics | 2024

von Cannon, S. | Hall, T. | Hawkes, G. | +7

52

Bridging the clinical-research gap : Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

enthalten in: Molecular genetics and metabolism | 2024

von MacMullen, L. | George-Sankoh, I. | Stanley, K. | +5

53

A novel variant of DNM1L expanding the clinical phenotypic spectrum : a case report and literature review

enthalten in: BMC pediatrics | 2024

von Zhang, Z. | Bie, X. | Chen, Z. | +8

54

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

enthalten in: BMC pediatrics | 2024

von Zhang, Z. | Bie, X. | Chen, Z. | +8

55

Applying pGz in Mitochondrial Disease : The Utility of pGz in Primary Mitochondrial Disorders

enthalten in: ClinicalTrials.gov | 2024

56

Mitochondrial Disease-associated ImmunoDeficiencies : Determining the Relevance of Mitochondrial Disease-associated ImmunoDeficiencies - MitoID

enthalten in: ClinicalTrials.gov | 2024

57

Perceived association of mood and symptom severity in adults with mitochondrial diseases

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Kelly, C. | Junker, A. | Englestad, K. | +3

58

Current management of primary mitochondrial disorders in EU countries : the European Reference Networks survey

enthalten in: Journal of neurology | 2024

von Mancuso, M. | Lopriore, P. | Lamperti, C. | +11

59

SERAC1 gene mutation presented with markedly alpha fetoprotein elevation : case report

enthalten in: Acta neurologica Belgica | 2024

von Bayrak, H. | Sezer, A. | Danış, A. | +3

60

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea

enthalten in: Diabetes & metabolism journal | 2024

von Rho, E. | Baek, S. | Lee, H. | +4