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5. Stepwise ABC system for classification of any type of genetic variant

7. Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))

8. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

9. Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

10. Making sense of missense variants in TTN-related congenital myopathies

11. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).

12. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

13. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

14. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

15. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

16. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

22. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

23. Kongenitale myasthene Syndrome im Erwachsenenalter

24. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

25. Congenitalmyasthenic syndromes in adulthood. Challenging, rare but treatable

26. P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features

29. Die genomische Ätiologie fetaler Akinesie

31. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

32. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

35. Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

36. Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights

40. Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

41. Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights

44. G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

45. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

46. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

47. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

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