Research ExplorerScientific StaffAmelie Theresa Van der Ven

Dr.med. ID: 6218911

Amelie Theresa Van der Ven

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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

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

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

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

Research output: SCORING: Contribution to journal › Case report › Research › peer-review

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

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

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

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

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

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

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

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

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

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

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

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

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

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

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