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1. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

7. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

10. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

12. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

17. Cohort profile : the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010 : a complete nationwide cohort of SCDs

18. Spontaneous Coronary Artery Dissection and Papillary Muscle Rupture in Patient With Undiagnosed Vascular Ehler-Danlos Syndrome.

19. Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

21. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

24. Cohort profile : the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010

29. Clinical and genetic characteristics of late-onset Huntington's disease

32. Case Report : Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

33. Genetic and functional insights into CDA-I prevalence and pathogenesis

34. Genetic and functional insights into CDA-I prevalence and pathogenesis

35. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

36. Genetic and functional insights into CDA-I prevalence and pathogenesis

39. Mutation update for the PORCN gene

40. Genetic and functional insights into CDA-I prevalence and pathogenesis

41. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

44. Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

46. Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

47. Cognitive decline in Huntington's disease expansion gene carriers

50. Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

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