CNRGH
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Nature Communications 2022, vol. 13, issue 1
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Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
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Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
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Reactive astrocytes promote proteostasis in Huntington’s disease through the JAK2-STAT3 pathway
Brain 2022, vol. 146, issue 1
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
European Journal of Human Genetics 2021, vol. 30, issue 5
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Juliette Coursimault et al.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Human Genetics 2021, vol. 141, issue 1
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Mutations and variants of ONECUT1 in diabetes
Nature Medicine 2021, vol. 27, issue 11
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications 2021, vol. 9, issue 1
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Long non-coding RNA exploration for mesenchymal stem cell characterisation
BMC Genomics 2021, vol. 22, issue 1
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The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma
Cancers 2021, vol. 13, issue 9
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