890 results on '"Eiberg, Hans"'
Search Results
2. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
3. Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction
4. Loss of the Retinoblastoma Protein-Related p130 Protein in Small Cell Lung Carcinoma
5. Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction
6. Heterogeneity in glucose response curves during an oral glucose tolerance test and associated cardiometabolic risk
7. Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study
8. The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24
9. Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data
10. High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients
11. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
12. Human eye colour and HERC2, OCA2 and MATP
13. Huntington's disease-like and ataxia syndromes: Identification of a family with a de novo SCA17/ TBP mutation
14. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
15. Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker
16. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
17. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
18. Cardiac involvement in myotonic dystrophy: a nationwide cohort study
19. A high frequent BRCA1 founder mutation identified in the Greenlandic population
20. Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
21. Evidence for a serotonergic subtype of major depressive disorder: A NeuroPharm-1 study
22. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
23. The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites
24. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
25. Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
26. Screening for Y microdeletions in men with testicular cancer and undescended testis
27. Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
28. Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
29. Mutational analysis of the human FATE gene in 144 infertile men
30. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter
31. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect
32. The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood
33. Differential Nongenetic Impact of Birth Weight Versus Third-Trimester Growth Velocity on Glucose Metabolism and Magnetic Resonance Imaging Abdominal Obesity in Young Healthy Twins
34. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip
35. Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in theLMX1BGene
36. Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
37. Evidence for a Serotonergic Subtype of Major Depressive Disorder
38. Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1
39. Assembly and analysis of 100 full MHC haplotypes from the Danish population
40. Compound Heterozygous ASPM Mutations in Pakistani MCPH Families
41. Variants Near MC4R Are Associated With Obesity and Influence Obesity-Related Quantitative Traits in a Population of Middle-Aged People: Studies of 14,940 Danes
42. Structural organization of the human short-chain acyl-CoA dehydrogenase gene
43. Hereditary phenotypes in nocturnal enuresis
44. Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1
45. A Novel Mutation in IRF6 Resulting in VWS-PPS Spectrum Disorder With Renal Aplasia
46. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
47. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig
48. A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
49. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
50. Non-disjunction of chromosome 13
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.