Tasja Scholz
Hamburg, HH 20251, Germany
Last Updated: 09/26/2026
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Found 10 publications
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Journal: American journal of human genetics
Published: June 10, 2023
TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: August 08, 2022
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans.
Journal: Molecular psychiatry
Published: July 01, 2022
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
Journal: Scientific reports
Published: December 17, 2021
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Journal: Brain : a journal of neurology
Published: June 14, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Journal: Clinical genetics
Published: June 14, 2021
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 22, 2020
Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy.
Journal: Molecular and cellular pediatrics
Published: March 03, 2020
Innate immune responses to Stenotrophomonas maltophilia in immunocompromised pediatric patients and the effect of taurolidine.
Journal: Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
Published: January 05, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026