Andreas Tzschach
Freiburg, BW, Germany
Last Updated: 09/26/2026
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Found 79 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome.
Journal: European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
Published: August 25, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Journal: American journal of medical genetics. Part A
Published: April 17, 2023
Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome.
Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome.
Journal: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
Published: December 09, 2022
Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results.
Journal: Translational psychiatry
Published: November 05, 2022
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
Journal: Cell death & disease
Published: October 06, 2022
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Journal: Brain : a journal of neurology
Published: October 03, 2022
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: July 30, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 31, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 05, 2022
Last Updated: 09/26/2026