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3. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

7. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

8. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

10. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

11. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

12. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

13. Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

14. The GENESIS database and tools: A decade of discovery in Mendelian genomics

15. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

20. De novo variants in DENND5B cause a neurodevelopmental disorder

21. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

22. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

25. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

26. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

27. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

28. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

29. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

30. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

31. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

37. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

41. Geleneksel sinterleme ve spark plazma sinterleme yöntemlerinin nanokristal yapılı CoCrFeNi yüksek entropili alaşımın mikroyapısal özellikleri ve sertliği üzerine etkilerinin araştırılması

45. De novo variants in DENND5B cause a neurodevelopmental disorder

46. A Study on Preferred Learning Styles of Turkish EFL Teacher Trainees

47. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

48. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

49. Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

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