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157 results on '"Hoffjan S"'

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3. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

15. Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS.

16. Association of TNFAIP3 and TNFRSF1 A variation with multiple sclerosis in a German case-control cohort.

18. Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients

20. Association of interleukin-8 receptorapolymorphisms with chronic obstructive pulmonary disease and asthma.

21. Severe respiratory syncytial virus infections and reduced interferon-γ generationin vitro.

22. Effect of Recombinant Human DNase on a1-Proteinase Inhibitor Function: An Experimental Approach to the Combined Clinical Use of rhDNase and a1-PI in CF Patients.

25. Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease

26. Association studies for asthma and atopic diseases: a comprehensive review of the literature

27. Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

28. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

29. Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation.

30. ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

31. Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.

32. Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.

34. Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants.

35. Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

36. Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.

37. Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.

38. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

40. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

41. Association between shorter leukocyte telomeres and multiple sclerosis.

42. The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis.

43. Evaluation of variation in genes of the arylhydrocarbon receptor pathway for an association with multiple sclerosis.

45. BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.

46. TPP2 mutation associated with sterile brain inflammation mimicking MS.

47. Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

48. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

49. First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

50. Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

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