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List of works by Karine Siquier-pernet

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

scientific article published on 8 July 2015

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

scientific article published on 3 October 2013

Contiguous mutation syndrome in the era of high-throughput sequencing

scientific article published on 18 March 2015

Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancer.

scientific article published on 4 April 2011

Effect of dexamethasone on adipocyte differentiation markers and tumour necrosis factor-alpha expression in human PAZ6 cells

scientific article

Genotype specific age related changes in a transgenic rat model of Huntington's disease

scientific article

Multimodal In Vivo Imaging of Tumorigenesis and Response to Chemotherapy in a Transgenic Mouse Model of Mammary Cancer

scientific article

Mutation in TTI2 reveals a role for triple T complex in human brain development

scientific article published on 10 September 2013

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

scientific article

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

scientific article published on 30 March 2016

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

scientific article

Refining the phenotype associated with CASC5 mutation

scientific article published on December 2015

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

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