Search

Your search keyword '"Bole-Feysot, Christine"' showing total 15 results

Search Constraints

Start Over You searched for: Author "Bole-Feysot, Christine" Remove constraint Author: "Bole-Feysot, Christine" Database Springer Nature Journals Remove constraint Database: Springer Nature Journals
15 results on '"Bole-Feysot, Christine"'

Search Results

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

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

10. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

11. Recurrent KIF2A mutations are responsible for classic lissencephaly

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

Catalog

Books, media, physical & digital resources