459 results on '"Eiberg H"'
Search Results
2. Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study
3. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family
4. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
5. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
6. Genetic heterogeneity in Pakistani microcephaly families
7. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
8. Genetic studies in congenital anterior midline cervical cleft
9. Hepatocyte nuclear factor-6: associations between genetic variability and Type II diabetes and between genetic variability and estimates of insulin secretion
10. RUNX2 analysis of Danish cleidocranial dysplasia families
11. Dombrock blood group (DO): assignment to chromosome 12p
12. Mutation identification in Danish families with congenital cataract: 115-05
13. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
14. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
15. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
16. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
17. Heterogeneity of FeNO response to inhaled steroid in asthmatic children
18. Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1q by a linkage study
19. Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study
20. LINKAGE STUDY OF A LARGE DANISH 4-GENERATION FAMILY WITH URGE INCONTINENCE AND NOCTURNAL ENURESIS
21. Mutation of ribosomal RNA-processing protein 7 homolog A (RRP7A) cause autosomal recessive microcephaly with intellectual disability
22. Orosomucoid polymorphism: Determination by Separator Isoelectric Focusing and Demonstration of ORM*F subtypes
23. Familial Steroid Sensitive Nephrotic Syndrome: Linkage data to Chromosome 15 and 6
24. Polymorphisms in Phase I and Phase II genes and breast cancer risk and relations to persistent organic pollutant exposure in Inuit and Danish women
25. Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study
26. Cytoplasmic expression of E-cadherin and ß-catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas
27. Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
28. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family
29. A novel mutation in the -sarcoglycan gene causing myoclonus-dystonia syndrome
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. Mutational analysis of the human FATE gene in 144 infertile men
32. High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion
33. Genetic studies in congenital anterior midline cervical cleft
34. Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter
35. A polymorphic variant in the human electron transfer flavoprotein α-chain (αT171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mildchildhood presentation
36. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
37. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
38. Hereditary henotypes in nocturnal enuresis
39. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia
40. Polymorphic drug metabolizing CYP-enzymes--a pathogenic factor in oral lichen planus?
41. Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyl transferase family
42. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family
43. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
44. Genetic screening of 15 SNPs in the MC1R gene in relation to hair colour in Danes
45. Cytoplasmic expression of E-cadherin and γ-catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas
46. Genetic heterogeneity in Pakistani microcephaly families
47. Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma
48. Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma
49. Genetic polymorphisms of enzymes involved in xenobiotic metabolism among Greenlandic Inuit
50. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
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