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Karine Siquier-Pernet

Showing results (1-10 of 23) with videos related to

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Molecular Pharmaceutics|March 23, 2011
Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancerJinzi Zheng, Raphaël Boisgard, Karine Siquier-Pernet, et al.
Oligonucleotides|August 30, 2008
Molecular imaging study on in vivo distribution and pharmacokinetics of modified small interfering RNAs (siRNAs)Thomas Viel, Raphael Boisgard, Bertrand Kuhnast, et al.
Neurogenetics|December 3, 2015
Refining the phenotype associated with CASC5 mutationAbdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingRomain Nicolle, Karine Siquier-Pernet, Marlène Rio, et al.
Human Mutation|August 20, 2013
Mutation in TTI2 reveals a role for triple T complex in human brain developmentMaéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, et al.
Molecular Autism|January 12, 2016
Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiologyLam Son Nguyen, Marylin Lepleux, Mélanie Makhlouf, et al.
Molecular Genetics & Genomic Medicine|June 2, 2015
Contiguous mutation syndrome in the era of high-throughput sequencingMaéva Langouët, Karine Siquier-Pernet, Sylvia Sanquer, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetranceMatthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophyLam Son Nguyen, Taiane Schneider, Marlène Rio, et al.
HGG Advances|October 18, 2024
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophyMatis Crespin, Karine Siquier-Pernet, Pauline Marzin, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Molecular Pharmaceutics|March 23, 2011
Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancerJinzi Zheng, Raphaël Boisgard, Karine Siquier-Pernet, et al.
Oligonucleotides|August 30, 2008
Molecular imaging study on in vivo distribution and pharmacokinetics of modified small interfering RNAs (siRNAs)Thomas Viel, Raphael Boisgard, Bertrand Kuhnast, et al.
Neurogenetics|December 3, 2015
Refining the phenotype associated with CASC5 mutationAbdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingRomain Nicolle, Karine Siquier-Pernet, Marlène Rio, et al.
Human Mutation|August 20, 2013
Mutation in TTI2 reveals a role for triple T complex in human brain developmentMaéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, et al.
Molecular Autism|January 12, 2016
Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiologyLam Son Nguyen, Marylin Lepleux, Mélanie Makhlouf, et al.
Molecular Genetics & Genomic Medicine|June 2, 2015
Contiguous mutation syndrome in the era of high-throughput sequencingMaéva Langouët, Karine Siquier-Pernet, Sylvia Sanquer, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetranceMatthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophyLam Son Nguyen, Taiane Schneider, Marlène Rio, et al.
HGG Advances|October 18, 2024
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophyMatis Crespin, Karine Siquier-Pernet, Pauline Marzin, et al.
Pageof 3