238 results on '"Pearson, Peter L."'
Search Results
2. Rapid N-Acetyltransferase 2 Imputed Phenotype and Smoking May Increase Risk of Colorectal Cancer in Women (Netherlands)
3. High Sibling Correlation on Methylphenidate Response but No Association with DAT1-10R Homozygosity in Dutch Sibpairs with ADHD
4. Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
5. Current Smoking at Menopause Rather than Duration Determines the Onset of Natural Menopause
6. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
7. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3
8. sj-pdf-3-tub-10.1177_1010428320977124 – Supplemental material for Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation
9. Hepatoblastomas exhibit markedNNMTdownregulation driven by promoter DNA hypermethylation
10. Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age
11. Heart Disease Risk Determines Menopausal Age Rather Than the Reverse
12. Refined genetic and comparative physical mapping of the canine copper toxicosis locus
13. GENETIC VARIABILITY IN THE MYOSTATIN GENE DOES NOT EXPLAIN THE MUSCLE HYPERTROPHY AND CLINICAL PENETRANCE IN MYOTONIA CONGENITA
14. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
15. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
16. Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite
17. A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization
18. High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD
19. Heritability of menopausal age in mothers and daughters
20. Origin of Chromosome Rearrangements in Two Long-Lived Human Keratinocyte Lines
21. The recurrent translocation t(14;20)(q32;q12) in multiple myeloma results in aberrant expression of MAFB: a molecular and genetic analysis of the chromosomal breakpoint
22. A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9
23. Subfertility reflects accelerated ovarian ageing
24. Relationship of β2-Adrenergic Receptor Polymorphism With Obesity in Type 2 Diabetes
25. Somatic origin of inherited haemophilia A
26. The variability of female reproductive ageing
27. Identification of a new copper metabolism gene by positional cloning in a purebred dog population
28. A major non-HLA locus in celiac disease maps to chromosome 19
29. Number of rare germline CNVs and TP53 mutation types
30. Quality and Quantity of DNA Isolated from Frozen Urine in Population-Based Research
31. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.
32. Managing All Those Bytes: The Human Genome Project
33. True polyploid meiosis in the human male
34. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
35. Basic Molecular Defect in ADA SCID
36. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
37. Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids
38. Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote
39. A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
40. Novel partial duplication ofEYA1causes branchiootic syndrome in a large Brazilian family
41. Detection of Chromosomal Aberrations in Interphase and Metaphase Cells in Prenatal and Postnatal Studies
42. Fluorescent In Situ Hybridization Using Chromosome-Specific DNA Libraries
43. The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
44. Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor
45. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
46. Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
47. Germline DNA copy number variation in familial and early-onset breast cancer
48. Copy number variants on the X chromosome in women with primary ovarian insufficiency
49. Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita
50. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
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