15 results on '"Bole-Feysot, Christine"'
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2. 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
3. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
4. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
5. A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
6. Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
7. Targeted therapy in patients with PIK3CA-related overgrowth syndrome
8. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
9. Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models
10. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology
11. Recurrent KIF2A mutations are responsible for classic lissencephaly
12. Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders
13. Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome
14. Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
15. Analysis of prolactin-modulated gene expression profiles during the Nb2 cell cycle using differential screening techniques
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