Mostrando 661 - 680 Resultados de 20,093 Para Buscar '"recession"', tiempo de consulta: 0.27s Limitar resultados
  1. 661
  2. 662
    “…PURPOSE: To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family. …”
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  3. 663
    “…Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal dystrophy resulted from mutations in bestrophin-1 (BEST1) which affect functioning of the retinal pigment epithelium (RPE). …”
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  4. 664
    “…Epidermolysis bullosa is a debilitating dermatologic disorder affecting the adhesive capability between the epidermis and dermis. The severe recessive dystrophic variant is caused by mutations in COL7A1, the gene encoding type VII collagen which is the major structural protein of the anchoring fibrils linking these 2 skin layers.1 The management of recessive dystrophic epidermolysis bullosa (RDEB) remains complex with no curative therapy. …”
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  5. 665
    “…This paper investigates how the 2008–9 recession affected civic participation in disadvantaged and affluent neighbourhoods in the city of Rotterdam. …”
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  6. 666
  7. 667
  8. 668
    “…BACKGROUND: Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. …”
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  9. 669
    “…Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. …”
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  10. 670
    “…This is also evidenced by the common molecular principles regulating key processes associated with cell division and apoptosis. Autosomal recessive primary microcephaly (MCPH) is a neurogenic mitotic disorder that is characterized by decreased brain size and mental retardation. …”
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  11. 671
    “…Clinical variables, plaque index (PI), gingival index (GI), probing depth (PD), recession depth (RD), recession width (RW), clinical attachment level (CAL), keratinized tissue thickness (KTT), keratinized tissue width (KTW), and root coverage (RC) were assessed at the baseline as well as at three and six months post-surgery. …”
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  12. 672
    “…LINS1 has been reported to cause MRT27 (mental retardation, autosomal recessive 27), a rare autosomal recessive nonsyndromic intellectual disability, with limited characterization of the phenotype. …”
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  13. 673
  14. 674
    “…The performance of eMSS was evaluated by simulations and real data analysis for autosomal recessive diseases multiple intestinal atresia (MIA) and osteogenesis imperfecta (OI), where the number of cases is extremely small. …”
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  15. 675
  16. 676
    “…PURPOSE: To describe the results of selective laser trabeculoplasty (SLT) in eyes with angle recession glaucoma (ARG). To our knowledge, this is the first report of SLT being used as treatment modality for angle recession glaucoma. …”
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  17. 677
    “…RESULTS: Despite the proclination of the incisal tip (by approximately 3 mm), labial gingival recession did not occur. The labial gingiva was thicker in the AT group (1.85±0.50 mm vs. 1.76±0.45 mm, P>0.05) and CM group (1.90±0.33 mm vs. 1.79±0.20 mm, P>0.05) than in their respective control groups. …”
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  18. 678
    “…Genetic alterations of CRTAP are known to cause osteogenesis imperfecta (OI) in an autosomal recessive manner. Further examination of the proband’s elder sibling who was diagnosed as OI after birth found that she shares the inherited compound heterozygous mutations of CRTAP; thus, the findings support the disease-causing role of CRTAP mutations. …”
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  19. 679
    “…By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu). …”
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  20. 680
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