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Your search keyword '"Touraine R"' showing total 29 results

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29 results on '"Touraine R"'

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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

3. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

4. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

5. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

6. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

7. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

8. TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): FURTHER RESULTS FROM THE TOSCA NATURAL HISTORY STUDY

9. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death

10. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

11. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

12. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

13. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

14. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

15. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

16. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

19. [Non-epidermotropic cutaneous lymphomas]

21. MALIGNANT CUTANEOUS RETICULOSES IN ADULTS

23. [Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]

26. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

27. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

28. Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

29. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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