Concepedia
Statistics
Publications
30
Citations
1.3K
H-Index
19
Active since
2002
Affiliations
University of Göttingen(Current)
Universitätsmedizin Göttingen
University Hospital Münster
Institute of Human Genetics
University Hospital Magdeburg
Silke Pauli is an author at University of Göttingen specializing in molecular genetics, life sciences, and genetics.
Publications per year
2002–2020
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 212 citations · Full text
Medicine, Genetics, Oncology +17
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Yvonne Schulz, Peter Wehner, Lennart Opitz et al. · Human Genetics · 2014 · 122 citations
Life Sciences, Genetics, Molecular Genetics +14
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
Lindsey M. Pieper, ANNA M. KOSZUCKA, Nina von Velsen et al. · Human Molecular Genetics · 2010 · 94 citations · Full text
The face of Noonan syndrome: Does phenotype predict genotype
Judith Allanson, Axel Bohring, Helmuth‐Guenther Dörr et al. · American Journal of Medical Genetics Part A · 2010 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors
Stefanie Spiegler, Juliane Najm, Jian Liu et al. · Molecular Genetics & Genomic Medicine · 2014 · 71 citations · Full text
Life Sciences, Genetics, Neurology +16
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