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161 results on '"Slater, Howard"'

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1. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

5. Real time emulation environment for digital control development

6. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

14. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

15. Additional file 1: of Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

19. Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

21. An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

22. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

25. ADGRV1 is implicated in myoclonic epilepsy

27. Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation

28. Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68

29. Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

30. Sensorless Control of im for Limp-Home Mode EV Applications

31. Survival of the Fittest?

32. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

33. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

34. <italic>ADGRV1</italic> is implicated in myoclonic epilepsy.

35. Diagnostic application of kidney allograft‐derived absolute cell‐free DNAlevels during transplant dysfunction

37. Reply to Wirtenberger et al

38. Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism

39. Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots

41. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

44. Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

45. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

46. Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study

48. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

50. A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

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