Search

Your search keyword '"Tveten K"' showing total 78 results

Search Constraints

Start Over You searched for: Author "Tveten K" Remove constraint Author: "Tveten K"
78 results on '"Tveten K"'

Search Results

1. Practice, play, repeat – individualized outcomes after the "intensity matters!"-program for children with disabilities – a descriptive multicase study.

2. Calmodulin mutations and life-threatening cardiac arrhythmias: Insights from the International Calmodulinopathy Registry

3. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

4. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

5. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

6. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

7. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

8. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

11. Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

12. Decision-making in job attendance within health care--a qualitative study.

14. Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.

15. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

16. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

17. Comparison of the ABC and ACMG systems for variant classification.

18. A monoallelic UXS1 variant associated with short-limbed short stature.

19. Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

20. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

21. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

22. Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.

23. Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

25. Maternal Folic Acid-Containing Supplement Use in Relation to Offspring Motor Function. A Prospective Study of 503 Mother-Child Dyads.

26. A man in his sixties with chondritis and bone marrow failure.

28. A woman in her fifties with chronic muscle weakness.

29. Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study.

30. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

31. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

32. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.

33. Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.

34. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

35. Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

36. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

37. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

38. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

39. De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

40. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

41. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

42. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

43. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

44. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

45. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

46. Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.

47. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

48. Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

49. Clinical exome sequencing – Norwegian findings.

50. Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Catalog

Books, media, physical & digital resources