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1. Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

2. Standards for the care of people with cystic fibrosis (CF); Planning for a longer life

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

4. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

6. Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia

7. Recommendations for whole genome sequencing in diagnostics for rare diseases

11. Using three‐dimensional geometric morphometry for facial analysis in patients with the oculo‐auriculo‐vertebral spectrum.

12. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

14. Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder

18. Changing epidemiology of the respiratory bacteriology of patients with cystic fibrosis–data from the European cystic fibrosis society patient registry

19. The future of cystic fibrosis care: a global perspective

21. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

22. Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

23. Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment

26. Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

29. Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

31. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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

33. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

36. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

37. Test Pricing and Reimbursement in Genomic Medicine : Towards a General Strategy

38. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

39. Contributors

40. The Genomic Medicine Alliance: A Global Effort to Facilitate the Introduction of Genomics into Healthcare in Developing Nations

41. Náhlá srdeční smrt u dědičných kardiovaskulárních onemocnění.

42. (Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic)

43. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

45. Solving unsolved rare neurological diseases-a Solve-RD viewpoint

48. Pulmonary Infection and its Management in Cystic Fibrosis Patients in the Czech Republic

49. Outcomes of a multicenter study of the causes of sudden cardiac death (SCD) in the Czech Republic and primary prevention of cardiac arrest in relatives

50. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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