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163 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. Validation of the NIH-Toolbox cognitive battery into different European languages in down syndrome population

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

5. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

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

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

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

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

14. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

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

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

17. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

19. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

20. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients

21. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

22. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

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

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

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

27. VIIℴ journées de diabétologie de l'Hôtel-Dieu extraits

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

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

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

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

32. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

34. BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

35. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

36. OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

38. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

40. The bystander effect in the HSVtk/ganciclovir system and its relationship to gap junctional communication.

41. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

45. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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

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

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

49. Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

50. Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

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