200 results on '"Lench, Nicholas"'
Search Results
2. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
3. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
4. Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
5. Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
6. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
7. Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor
8. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
9. CHD2 variants are a risk factor for photosensitivity in epilepsy
10. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
11. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
12. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
13. Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization
14. Improving the clinical interpretation of missense variants in X linked genes using structural analysis
15. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome
16. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made
17. Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
18. Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
19. Non-invasive prenatal diagnosis for thanatophoric dysplasia: P1-54
20. The use of formaldehyde to stabilize the percentage of fetal DNA from cell-free DNA: P1-53
21. Diagnostic implications of genetic copy number variation in epilepsy plus
22. Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes
23. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
24. Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness
25. The IBD6 Crohnʼs disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants
26. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors
27. A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
28. A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment
29. The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity
30. Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
31. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
32. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)
33. DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)
34. (CGG) trinucleotide repeat polymorphism in the 5′ region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6
35. Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions
36. A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
37. CHD2 variants are a risk factor for photosensitivity in epilepsy
38. CHD2 variants are a risk factor for photosensitivity in epilepsy
39. Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol
40. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation
41. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency
42. Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization
43. KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
44. Evaluation of Real-Time Quantitative PCR as a Standard Cytogenetic Diagnostic Tool for Confirmation of Microarray (aCGH) Results and Determination of Inheritance
45. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
46. The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss
47. Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions
48. Genetics – getting personal
49. Linkage disequilibrium mapping of the chromosome 12 (IBD2) inflammatory bowel disease susceptibility locus in an enlarged cohort
50. Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus
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