Research ExplorerScientific StaffTheresia Herget

Dr.med. ID: 5308790

Theresia Herget

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Affiliations

Publications

TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans

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

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

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

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

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

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome

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

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

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

Congenital disorders of glycosylation with defective fucosylation

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

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

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

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