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1. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

2. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

3. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

4. Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

5. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

9. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

11. Poster

12. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

25. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

35. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

36. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

37. Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

38. NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

40. De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

42. Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

43. Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

45. Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

47. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

48. Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

50. Hypophosphatasia due to uniparental disomy

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