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  1. 1121
    por Romualdez-Tan, Maria Victoria
    Publicado 2023
    “…Although IVG is still faced with many challenges in terms of technical issues, as well as efficacy and safety, novel IVG methodologies are emerging, and IVG using iPSCs may usher in the next era of reproductive medicine sooner than expected. …”
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    Modelling in vitro gametogenesis using induced pluripotent stem cells: a review
  2. 1122
    “…To achieve purification of FliC to homogeneity, we used a mutant CFT073 strain containing deletions in four major chaperone-usher fimbriae operons (type 1, F1C and two P fimbrial gene clusters; CFT073Δ4). …”
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    Physical Extraction and Fast Protein Liquid Chromatography for Purifying Flagella Filament From Uropathogenic Escherichia coli for Immune Assay
  3. 1123
    por Penn, Dustin J., Számadó, Szabolcs
    Publicado 2019
    “…There is no theoretical or empirical support for the Handicap Principle and the time is long overdue to usher this idea into an ‘honorable retirement’.…”
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    The Handicap Principle: how an erroneous hypothesis became a scientific principle
  4. 1124
    “…CONCLUSION: Our study showcases that the action research approach used in Mauritania can usher local and national actors towards change within the health system strengthening programme when certain conditions are met. …”
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    Action research and health system strengthening: the case of the health sector support programme in Mauritania, West Africa
  5. 1125
    “…METHODS: Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than severe SNHL and also with suspicion of Usher syndrome type II (USH2) were enrolled. A comprehensive audiological and ophthalmological assessments were evaluated. …”
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    Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation
  6. 1126
    “…RESULTS: Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) with retinitis pigmentosa, 7/15 (46.7%) with cone and cone-rod dystrophy, 2/3 (66.6%) with Usher syndrome, 1/2 (50.0%) with congenital stationary night blindness, 2/2 (100.0%) with Leber congenital amaurosis, 1/1 (100.0%) with Bietti crystalline dystrophy, 1/1 (100.0%) with Joubert syndrome, 9/10 (90.0%) with Stargardt macular dystrophy, 1/10 (10.0%) with vitelliform macular dystrophy, 1/11 (9.1%) with other forms of macular dystrophy, and 3/4 (75.0%) with choroideraemia. …”
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    Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
  7. 1127
    “…A prospective and retrospective cohort study was performed on 100 probands with an a priori diagnosis of non-Usher SRDs, using available clinical data, including Human Phenotype Ontology annotation, and further classification into seven clinical categories (ciliopathies, specific syndromes and five others). …”
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    NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
  8. 1128
    “…The most common forms of syndromic HL were Usher syndrome (4) and Waardenburg (4), followed by SCID/reticular dysgenesis (3), CHARGE (2), CAPOS (1), Coffin-Siris (1), Jervell and Lange-Nielsen (1), Noonan (1), peroxisome biogenesis disorder (1), Perrault (1), and Trisomy 21 (1). …”
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    Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss
  9. 1129
    “…Phylogenetic tree was constructed by using MEGA (version X) and UShER. RESULTS: In this study, we reported the emergence of a novel variant of SARS-CoV-2, named B.1.1.526, in India. …”
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    Emergence of a novel SARS-CoV-2 Pango lineage B.1.1.526 in West Bengal, India
  10. 1130
    “…The cluster method of R programming has been used to usher the significantly affected areas of SMEs. Based on the cluster theme, an open-ended questionnaire was developed and used to interview 23 SMEs in Bangladesh for the case study. …”
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    SMEs in Covid-19 Crisis and Combating Strategies: A Systematic Literature Review (SLR) and A Case from Emerging Economy()
  11. 1131
    “…This finding proposes that identifying Hcy-related dyslipidemia risk, both traditional lipids and RC residual risk, is clinically relevant as we usher in a new era of targeting Hcy-lowering therapies to fight against dyslipidemia or even cardiovascular disease.…”
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    Plasma Homocysteine Level Is Independently Associated With Conventional Atherogenic Lipid Profile and Remnant Cholesterol in Adults
  12. 1132
    “…We sequenced 57 SARS-CoV-2 isolates from a Kenyan clinical population, of which 55 passed quality checks using the Ultrafast Sample placement on the Existing tRee (UShER) workflow. Phylo-genome-temporal analyses across two regions in Kenya (Nairobi and Kiambu County) revealed that B.1.1.7 (Alpha; n = 32, 56.1%) and B.1 (n = 9, 15.8%) were the predominant lineages, exhibiting low Ct values (5–31) suggesting high infectivity, and variant mutations across the two regions. …”
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    Genomic surveillance of SARS-COV-2 reveals diverse circulating variant lineages in Nairobi and Kiambu Counties, Kenya
  13. 1133
    “…These systems, once validated, could usher in a new era in Colorectal Cancer (CRC) prevention programs which would center around “Leave in-situ” and “Resect and discard” strategies. …”
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    The role of artificial intelligence based systems for cost optimization in colorectal cancer prevention programs
  14. 1134
    por Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
    Publicado 2023
    “…A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. …”
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    Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
  15. 1135
    “…BACKGROUND: Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study aimed to further increase understanding of the spectrum of RP in the Khyber Pakhtunkhwa region of Pakistan. …”
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    Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
  16. 1136
    “…Fifth, we argue that the actions of these actors are potentially explained by the prospect that e-cigarettes could usher in a new tobacco ‘policy paradigm’. Finally, we show how scientific authority is employed as a tool within these debates. …”
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    Evidence use in E-cigarettes debates: scientific showdowns in a ‘wild west’ of research
  17. 1137
    “…Finally, we discussed the functional consequences of three identified pathogenic HHD variants involved in Hoyeraal-Hreidarsson syndrome and of three newly reported pathogenic variants identified in patients suffering from Usher Syndrome. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-021-04116-5.…”
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    Phylogenetic analysis of Harmonin homology domains
  18. 1138
    “…Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) implicating CEP78 has been reported in CRDHL. …”
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    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
  19. 1139
    “…Previously reported ADGRV1 variants that were associated with audio-visual disorders were mostly biallelic/destructive variants, which were significantly more frequent in the severe phenotype of audio-visual disorders (Usher syndrome 2) than in other mild phenotypes. …”
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    ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities
  20. 1140
    “…The diagnostic yield on the SNHL patients was 42% (21/50): 47.6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC [n = 2], USH2A [n = 3], RDX, SLC26A4); 38.1% (8/21) autosomal dominant (ACTG1 [n = 3; 2 de novo], CHD7, GATA3 [de novo], MITF, P2RX2, SOX10), and 14.3% (3/21) X-linked (COL4A5 [de novo], POU3F4, PRPS1). 46.9% of causative variants (15/32) were not in the databases. 28.6% of genetically diagnosed cases (6/21) had previously undetected syndromes (Barakat, Usher type 2A [n = 3] and Waardenburg [n = 2]). 19% of genetic diagnoses (4/21) were attributable to large deletions/duplications (STRC deletion [n = 2]; partial CDH23 duplication; RDX exon 2 deletion). …”
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    Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
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