186 results on '"van der Maarel S"'
Search Results
2. Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
3. P.139 A cross sectional study of genetically confirmed cohort of facioscapulohumeral muscular dystrophy (FSHD) in the Indian population
4. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
5. FSHD
6. The expanding field of IgG4-mediated neurological autoimmune disorders
7. Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody-binding epitopes in myasthenia gravis
8. Facioscapulohumeral muscular dystrophy: Phenotype-genotype correlation in patientswith borderline D4Z4 repeat numbers
9. FSHD / OPMD / MYOTONIC DYSTROPHY
10. FSHD / OPMD / MYOTONIC DYSTROPHY
11. Epigenetic mechanisms in health and disease
12. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
13. ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma
14. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
15. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity
16. Genetic mechanisms in FSHD: FW2-1
17. FRG1P is localised in the nucleolus, Cajal bodies, and speckles
18. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
19. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
20. P.48The role of Dnmt3b in DUX4 repression in transgenic mice
21. P.40Ophthalmological findings in facioscapulohumeral dystrophy
22. FSHD: EP.165 Systemic delivery of antisense oligonucleotides targeting DUX4; a promising therapeutic strategy for facioscapulohumeral muscular dystrophy
23. NEW GENES, FUNCTIONS AND BIOMARKERS
24. Adding quantitative muscle MRI to the FSHD clinical trial toolbox
25. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
26. Expression profiling of 4q35/10q26 transcripts in FSHD using cDNA microarrays
27. Monosomy 18p: Risks for developing FSHD
28. Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD
29. Changes in sarcomeric contractile function influence force generation in facioscapulohumeral muscular dystrophy
30. Why are FSHD muscles weak? A novel role for sarcomeric proteins
31. Disease modifying factors in facioscapulohumeral muscular dystrophy: Protocol of the FSHD-FOCUS study
32. P.350 - Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
33. P.81 - Adding quantitative muscle MRI to the FSHD clinical trial toolbox
34. Population-based incidence and prevalence of facioscapulohumeral dystrophy
35. P.264 - Changes in sarcomeric contractile function influence force generation in facioscapulohumeral muscular dystrophy
36. P.265 - Monosomy 18p: Risks for developing FSHD
37. A.O.8 - Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD
38. Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody‐binding epitopes in myasthenia gravis
39. Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy
40. A focal domain of extreme demethylation within D4Z4 in FSHD2
41. Actualités physiopathologiques dans la dystrophie musculaire facio-scapulo-humerale : rôle majeur de la clinique dans les avancées de la recherche
42. Mild Muscular Features in Tenascin-X Knockout Mice, A Model of Ehlers–Danlos Syndrome
43. G.P.95 - Disease modifying factors in facioscapulohumeral muscular dystrophy: Protocol of the FSHD-FOCUS study
44. G.P.91 - Why are FSHD muscles weak? A novel role for sarcomeric proteins
45. Clinical features of facioscapulohumeral muscular dystrophy 2
46. T.P.1.09 Oculopharyngeal muscular dystrophy (OPMD): Physiopathological mechanisms and gene therapy approaches
47. Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X; autosome translocations
48. G.O.1 Specific sequence variations associated with FSHD
49. G.P.7.13 Gene expression profiling in a skeletal muscle cell model of oculopharyngeal muscular dystrophy reveals an extracellular matrix defect
50. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
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