Deborah Bartholdi
Researcher Next ID · RN-032391
Researcher · Biochemistry, Genetics and Molecular Biology
Bern, Germany
- Works count
- 1,138
- Citation count
- 9,488
- H-index
- 39
- i10-index
- 60
Research interests
Publications
Delineating the GRIN1 phenotypic spectrum
Neurology · 2016 · 10.1212/wnl.0000000000002740
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Annals of Neurology · 2013 · 10.1002/ana.24073
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
The Lancet · 2012 · 10.1016/s0140-6736(12)61480-9
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Nature Genetics · 2011 · 10.1038/ng.868
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
Human Mutation · 2011 · 10.1002/humu.21661
Thalassemia Syndromes
Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731
Thalassemia Syndromes
Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731
Thalassemia Syndromes
Journal · 2009 · https://doi.org/10.1007/978-3-540-29676-8_1731
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Nature Genetics · 2009 · https://doi.org/10.1038/ng.425
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
Journal of Medical Genetics · 2008 · 10.1136/jmg.2008.061820
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
The American Journal of Human Genetics · 2005 · 10.1086/429130
Expression of Pro‐Inflammatory Cytokine and Chemokine mRNA Upon Experimental Spinal Cord Injury in Mouse: an In Situ Hybridization Study
European Journal of Neuroscience · 1997 · 10.1111/j.1460-9568.1997.tb01497.x
Degeneration and regeneration of axons in the lesioned spinal cord
Physiological Reviews · 1996 · 10.1152/physrev.1996.76.2.319
Methylprednisolone inhibits early inflammatory processes but not ischemic cell death after experimental spinal cord lesion in the rat
Brain Research · 1995 · 10.1016/0006-8993(94)01410-j
Current projects
No projects listed.