Nina Bögershausen
0000-0003-4300-8224
Publication & Citation Trends
Publications
0 total
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis OA
Cited by 4
Semantic Scholar
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases OA
Cited by 1
Semantic Scholar
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly OA
Cited by 13
Semantic Scholar
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study OA
Cited by 11
Semantic Scholar
Floating-Harbor Syndrome: Presentation of The First Romanian Patient with a SRCAP Mutation and Review of The Literature OA
Cited by 8
Semantic Scholar
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders OA
Cited by 129
Semantic Scholar
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 OA
Cited by 173
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(9)
Genomics and Rare Diseases
(7)
Genetics and Neurodevelopmental Disorders
(5)
Chromatin Remodeling and Cancer
(4)
Epigenetics and DNA Methylation
(3)
Affiliations
University of Cologne
Universitätsmedizin Göttingen
Kepler Universitätsklinikum
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
University Hospital Cologne