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1. Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion.

5. Orofacial Manifestations Associated with Muscular Dystrophies: A Review

7. Aldolase A deficiency: Report of new cases and literature review

8. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

10. Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

11. The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

17. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

18. Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype

19. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

20. A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

25. Phenotypic variability and molecular genetics in proximal myotonic myopathy

26. Caveolinopathies in Greece

27. SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

28. The TREAT-NMD DMD Global Database: analysis of more than 7, 000 Duchenne muscular dystrophy mutations

29. The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

30. A simplified approach for FSHD molecular testing

31. The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations

32. Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol

33. Mutation spectrum and phenotypic manifestation in FSHD Greek patients

36. Coinheritance of Noonan syndrome and Becker muscular dystrophy

37. PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol

39. Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol

40. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: Offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes

41. Identification of three polymorphisms in the dystrophin gene

42. Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

45. DELETION PATTERNS OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES IN GREECE

46. Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

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