151 results on '"ørstavik, Karen Helene"'
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2. X Chromosome Inactivation Pattern Is Not Associated with Interindividual Variations in Thyroid Volume: A Study of Euthyroid Danish Female Twins
3. X chromosome inactivation in clinical practice
4. Pigmentary mosaicism in hypomelanosis of Ito: Further evidence for functional disomy of Xp
5. High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity
6. Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis
7. The X Chromosome and the Female Survival Advantage: An Example of the Intersection between Genetics, Epidemiology and Demography
8. Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?
9. Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features - a case of hereditary neuralgic amyotrophy
10. A New MZ-only Design: X Chromosome Inactivation and the Female Survival Advantage
11. Kari Nissen Fuglseth
12. Infant Death And Consanguineous Marriage
13. Hvorfor er autoimmune sykdommer hyppigere hos kvinner?
14. DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
15. Male infertility: Intracytoplasmic sperm injection (ICSI) using surgically retrieved sperm from the testis or the epididymis
16. Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods: a metaanalysis
17. Mary Lyon og hypotesen om X-kromosominaktivering
18. Aktuelt og velskrevet om genetikk
19. Enda en god lærebok i medisinsk genetikk
20. Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
21. Genterapi – et etterlengtet gjennombrudd
22. Currarinos syndrom ved Rikshospitalet 1961 – 2012
23. Genetiske selvtester
24. En modig samfunnsmedisiner i Medellín
25. Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
26. Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
27. A Syndrome of Factor VII Deficiency and Abnormal Platelet Release Reaction
28. Homozygous Expression of Haemophilia B in a Heterozygote
29. No Link Between X Chromosome Inactivation Pattern and Simple Goiter in Females: Evidence from a Twin Study
30. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
31. Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?
32. Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features-a case of hereditary neuralgic amyotrophy
33. Emery-Dreifuss syndrome in three generations of females, including identical twins
34. Right-sided microtia and conductive hearing loss with variable expressivity in three generations
35. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includesXIST and disrupts theEDA gene
36. DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
37. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
38. Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation
39. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome
40. Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis
41. Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?
42. To X-kromosomer – godt å ha – men ikke på samme tid. Om X-kromosomets inaktivering
43. X chromosome inactivation in cervical cancer patients
44. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear
45. X-linked genetic factors regulate hematopoietic stem-cell kinetics in females
46. X Chromosome Inactivation in Carriers of Barth Syndrome
47. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
48. Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene
49. Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.
50. Emery-Dreifuss syndrome in three generations of females, including identical twins.
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