Susanna Schubert

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 23 publications

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Journal: Frontiers in endocrinology

Published: April 03, 2026

Some degrees of difference: impact of in vitro cultivation temperature on mesenchymal stromal cells from species with different body core temperatures.

Some degrees of difference: impact of in vitro cultivation temperature on mesenchymal stromal cells from species with different body core temperatures.

Journal: BMC veterinary research

Published: March 19, 2026

Synthesis and characterization of π cyclopentadienyl complexes of manganese and iron with one to five fluorosilyl substituents. Crystal and molecular structures of [Mn(C5Br{SiMe2F}4)(CO)3] and [Mn(C5{SiMe2F}5)(CO)3].

Synthesis and characterization of π cyclopentadienyl complexes of manganese and iron with one to five fluorosilyl substituents. Crystal and molecular structures of [Mn(C5Br{SiMe2F}4)(CO)3] and [Mn(C5{SiMe2F}5)(CO)3].

Journal: Dalton transactions (Cambridge, England : 2003)

Published: August 26, 2025

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine

Published: December 12, 2023

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Journal: Brain : a journal of neurology

Published: September 19, 2023

Treatment of Naturally Occurring Tendon Disease with Allogeneic Multipotent Mesenchymal Stromal Cells: A Randomized, Controlled, Triple-Blinded Pilot Study in Horses.

Treatment of Naturally Occurring Tendon Disease with Allogeneic Multipotent Mesenchymal Stromal Cells: A Randomized, Controlled, Triple-Blinded Pilot Study in Horses.

Journal: Cells

Published: August 20, 2023

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Journal: American journal of medical genetics. Part A

Published: May 23, 2022

Extracellular Matrix Synthesis and Remodeling by Mesenchymal Stromal Cells Is Context-Sensitive.

Extracellular Matrix Synthesis and Remodeling by Mesenchymal Stromal Cells Is Context-Sensitive.

Journal: International journal of molecular sciences

Published: November 30, 2021

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

Journal: European journal of human genetics : EJHG

Published: July 30, 2021

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Journal: European journal of human genetics : EJHG

Published: July 22, 2021

Rho/ROCK Inhibition Promotes TGF-β3-Induced Tenogenic Differentiation in Mesenchymal Stromal Cells.

Rho/ROCK Inhibition Promotes TGF-β3-Induced Tenogenic Differentiation in Mesenchymal Stromal Cells.

Journal: Stem cells international

Published: May 21, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026