Research ExplorerScientific StaffJoenna Driemeyer

Dr.med. ID: 52772

Joenna Driemeyer

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Affiliations

Publications

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Mucha-Habermann disease: a pediatric case report and proposal of a risk score

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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