Research ExplorerScientific StaffKerstin Kutsche

Prof. Dr. ID: 40416

Kerstin Kutsche

graph of relations
Affiliations

Publications

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

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

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

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

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

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

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

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

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

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

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

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

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

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

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

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

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

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

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

View all (138)

projects

KU 1240/13-1 " Genom- und RNA-Sequenzier

Project: Research

Improving the clinical care of children and young adults with Marfan syndrome and related disorders by molecular genetic testing through next-generation sequencing

Project: Research

Genetic and functional studies of the microphthalmia with linear skin defects (MLS) syndrome

Project: Research

KO 4576/1-2 AOBJ: 629697

Project: Research

DFG KU 1240/10-1 AOBJ: 624356

Project: Research

Relevance of neuronal CASK for learning and memory

Project: Research

KU 1240/9-1 Identifizierung neuer Krankh

Project: Research

Stipendium DAAD

Project: Research

KU 1240/6-1 Genetische und funtionelle U

Project: Research

KU 1240/5-1 Identifizierung von Krankhei

Project: Research

View all (11)