list of common genetic diseases in humans

The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

... project started Introduction of Helicos technology Release of Ion-torrent Release of PacBio Release of Illumina GAIIx, ABI-SOLiD 3.0 Fig Timeline of introduction of DNA sequencing technologies ... medicine in developed countries These projects are 100K Genome project in the UK, Precision Medicine Initiative in USA, Japan, India, and Middle East, all aiming at bringing the benefits of genomics ... used to track infectious disease, precisely pinpointing the origin and nature of the outbreak through examining the whole genomes of infectious agents Future perspectives The advent of NGS has opened

Ngày tải lên: 14/01/2020, 23:30

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An analysic of common grammatical errors in english by 10 th graders and some pedagogical recommendations

An analysic of common grammatical errors in english by 10 th graders and some pedagogical recommendations

... again and again They still have errors while doing tests Starting from the recognition of the importance of addressing the problems with students’ common errors, the author focuses on finding ... about the field of grammar Besides, the author finds that her students make a lot of grammatical mistakes in their writing From the reality of teaching and the enthusiasm to teaching career, she ... ministry of education and training vinh university nguyễn thị thu hoài An analysis of common grammatical ERRORS in English BY 10th GRADERS AND

Ngày tải lên: 18/12/2013, 10:04

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Báo cáo toán học: "he environmental effect on crown shape of common cypress clones in the Mediterranean countries" pdf

Báo cáo toán học: "he environmental effect on crown shape of common cypress clones in the Mediterranean countries" pdf

... deviation and results of the Tukey test on individual means for each clone in each site. Indexes 1 ÷ 3 are derived variables of the shape of the crown (thinness indexes) as described in the text. Homogeneous ... locally, instead of aiming the entire research effort at finding a universal clone, that is adaptable to all environments mantaining its own shape. Similar conclusions are also being reached in works ... hypotheses of equality of clone means, sites and interaction effects. The results are reported in table II. The main results related to the proposed indexes are shown in table III, in particular

Ngày tải lên: 08/08/2014, 14:22

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Báo cáo khoa hoc:"Expression of common fragile sites in two Ceboidea species: Saimiri boliviensis and Alouatta caraya (Primates: Platyrrhini)" pptx

Báo cáo khoa hoc:"Expression of common fragile sites in two Ceboidea species: Saimiri boliviensis and Alouatta caraya (Primates: Platyrrhini)" pptx

... coincided with a breakpoint involved in a pericentric inversion proposed by Mudry et al [43], demonstrating a low coincidence (1/24, 4%) with rearranged sites Considering the total number of ... mammals [68] Taking into account that chromosomal rearrangements could be incorporated in the course of the evolutionary process, comparative cytogenetics has been used in phylogenetic studies ... chromosomes showing fragile sites (→) induced in ACA specimens induced c-fra sites and chromosomal changes known in SBO was found In ACA, a particular sex determination system was observed, resulting from

Ngày tải lên: 09/08/2014, 18:21

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Báo cáo sinh học: "Expected efficiency of selection for growth in a French beef cattle breeding scheme. II. Prediction of asymptotic genetic gain in a heterogeneous population" docx

Báo cáo sinh học: "Expected efficiency of selection for growth in a French beef cattle breeding scheme. II. Prediction of asymptotic genetic gain in a heterogeneous population" docx

... This underlines the necessity of classifying animals into cohorts according to the reproduction method in order to derive proper genetic gains Origin of parents of each cohort of calves ... proportion of parents selected in W from cohort of age i, among the parents X of offspring Y, bxy is the intra-sex proportion of parents of type X used to produce offspring ... about 30% of the genetic gains in Hg and M210 Dam selection accounts for about 30% of the genetic gains in Hg and 75% in M210 Consequently, genetic improvement in maternal

Ngày tải lên: 09/08/2014, 18:21

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The real situation of environment, health, diseases in thainguyen garment workers and effect of inetrvention

The real situation of environment, health, diseases in thainguyen garment workers and effect of inetrvention

... improving and care of working environment - Using mask was putting in the first important position and having permanent inspection - Combination with local committee, branch inspecting of ... after training and helping from researching... p(2&3) < 0.05 The rate of diseases in brochia and lung of Thainguyen garment workers is clear increasing by years of work ... and heath, preventing disease in respiratory in garment workers, include (Beginning and periodic training) Strengthening specialistic capacity in health care, decreasing disease, especially

Ngày tải lên: 25/08/2015, 14:53

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Identification of additional genetic alterations in RUNX1 related leukemias

Identification of additional genetic alterations in RUNX1 related leukemias

... domain Their protein sequences are highly conserved with 22 more than 90% identity in the Runt domain Moreover, all RUNX proteins have PPxY motif, a domain for the binding of WW domain-containing ... of Runx1 in leukemia initiation/progression, using mouse leukemia model generated by RIM. Overexpression of Evi5 helps to maintain Runx1-/stem cells in vitro and in vivo, thus increasing the chances ... and belief in me. i Table of Contents Acknowledgements i Table of Contents ii Summary v Index of tables vii Index of figures viii List of abbreviations x Publications List xii

Ngày tải lên: 12/09/2015, 08:19

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Common genetic variation in nephrin (NPHS1) and its associations with renal and type 2 diabetes mellitus related traits

Common genetic variation in nephrin (NPHS1) and its associations with renal and type 2 diabetes mellitus related traits

... DEGREE OF MASTER OF SCIENCE SAW SWEE HOCK SCHOOL OF PUBLIC HEALTH (Formerly Department of Community, Occupational and Family Medicine, Yong Loo Lin School of Medicine) NATIONAL UNIVERSITY OF SINGAPORE ... Fasting glucose (mmol/l) ^ † Fasting insulin (mmol/l) ^ † HOMA-insulin resistance ^ † HOMA-β-cell function (%) ^# rs437168 (G>A) BMI (kg/m2) WHR † Fasting glucose (mmol/l) ^ † Fasting insulin ... Fasting glucose (mmol/l) ^ † Fasting insulin (mmol/l) ^ † HOMA-insulin resistance ^ † HOMA-β-cell function (%) ^# rs460560 (T>C) BMI (kg/m2) WHR † Fasting glucose (mmol/l) ^ † Fasting insulin

Ngày tải lên: 03/10/2015, 20:58

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An investigation of common written errors in english compositions made by vietnamese students at the national college of education HCM city under the influence of native language transfer

An investigation of common written errors in english compositions made by vietnamese students at the national college of education HCM city under the influence of native language transfer

... Examples of interference errors in the misuse of parts Of SDeech HH HH nà nh nh nh Examples of interference errors in the misuse of articles Examples of interference errors in the misuse of the ... Examples of interference errors in the sequence of words Table 2.10: Examples of interference errors in determining the positlon Of adJ€CfIV€S cuc nhe Table 2.11: Examples of interference errors in ... determining 0039930010200 023 In ằằ-< - Table 2.12: Examples of interference errors in word order in structures containing units of measurement Table 2.13: Examples of interference errors in

Ngày tải lên: 02/07/2017, 07:58

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Bacterial Diseases in Humans

Bacterial Diseases in Humans

... caffeine user group in response to the product containing caffeine and p-synephrine. The results of this study in- dicate that ingestion of a product containing bitter orange extract, caffeine ... nor-epinehrine, but exhibits markedly different pharmacokinetic and receptor binding properties. The goal of this study was to investigate the cardiovascular effects of a product containing caffeine, ... associated with increased incidences of di-abetes, hypertension, hyperlipidemias, Bacterial Diseases in Humans Bacterial Diseases in Humans Bởi: OpenStaxCollege Devastating pathogen-borne diseases

Ngày tải lên: 30/10/2017, 23:55

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Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients: Protocol of a controlled prospective clinical observational study

Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients: Protocol of a controlled prospective clinical observational study

... [37] investigated the effectiveness of a self-help coping intervention in patients awaiting their genetic result Intrusive thoughts during the waiting period could be reduced significantly in patients ... [15] Other common motivations for the utilization of prognostic genetic testing are use of more screening offers, reassurance, and taking care of oneself ([16]; breast cancer screening) Study ... counteract informed decision-making Another important issue is the question of which individuals take the opportunity of genetic testing and/or counseling and which individuals not (different motivating

Ngày tải lên: 21/09/2020, 01:50

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Breast and prostate cancer: an analysis of common epidemiological features in mortality trends in Spain

Breast and prostate cancer: an analysis of common epidemiological features in mortality trends in Spain

... cases in 2012, coming just behind lung cancer (1,241,601), it nevertheless ranks first in incidence in Europe with 417,124 new diagnoses in 2012 Prostate cancer incidence witnessed a steep rise in ... existence of a high correlation between the incidence rates of both tumours over a wide range of incidence [7] This correlation supports the hypothesis of common causal pathways, probably including ... the leading tumour in terms of incidence among women world-wide [1] It is estimated that there were 1,676,633 new cases in 2012, causing over half a million deaths Despite the increase in the

Ngày tải lên: 14/10/2020, 13:07

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Species list of butterflies lepidoptera rhopalocera in minh hoa quang binh

Species list of butterflies lepidoptera rhopalocera in minh hoa quang binh

... the middle of the Truong Son mountain range in two districts of Bo Trach and Minh Hoa of Quang Binh province, bordering with Nature Reserve Hin Namno of Laos in the west Core area of the Park ... range species (Indochina) (R1) are 32 species (12.36%) The total species distributed inside India – Malaysia region (including species in the Indochina, Southeast Asian mainland, and Indo- V.V Lien ... 10 species consisting of 3.9% total species The butterfly fauna of Minh Hoa is characterized by the fauna of IndiaMalaysia region (86.8% of species of Minh Hoa distributed in this region) The

Ngày tải lên: 18/03/2021, 10:37

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Common genetic variants in FOXP2 are not associated with individual differences in language development

Common genetic variants in FOXP2 are not associated with individual differences in language development

... interests exist supporting language learning are genetically influenced (see for instance [1]) Some of the strongest evidence in support of this comes from findings of rare mutations in FOXP2 FOXP2 was ... critical in providing ‘a molecular window’ into the genetic bases of speech and language impairments [34] in that identification of the gene has opened up avenues of investigation into signaling pathways ... 17 FOXP2, Common Genetic Variants, Language In spite of this being one of the largest studies of its kind, we may still have been underpowered to detect common risk variants in FOXP2 of small

Ngày tải lên: 12/10/2022, 21:27

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LIST OF PERIODICALS AS CONTAINED IN THE PCT “MINIMUM DOCUMENTATION”

LIST OF PERIODICALS AS CONTAINED IN THE PCT “MINIMUM DOCUMENTATION”

... ANNEX IV Proposed revised list MINIMUM DOCUMENTATION LIST OF PERIODICALS page: 4.2.1 APPENDIX LIST OF ABBREVIATED TITLES LIST OF PERIODICALS AS CONTAINED IN THE PCT “MINIMUM DOCUMENTATION” Explanatory ... Russian for Chinese G – H – I Year when the periodical was first included in this list Indication of website internet address(es) where one or more of the following is possible: (a) information ... revised list MINIMUM DOCUMENTATION LIST OF PERIODICALS page: 4.2.40 Appendix 2, page A B – – E H – – 114(143) Soviet Engineering Research (formerly Machines and Tooling, and Russian Engineering Journal)

Ngày tải lên: 18/10/2022, 17:57

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Describing the primary care system capacity for the prevention and management of non communicable diseases in rural vietnam

Describing the primary care system capacity for the prevention and management of non communicable diseases in rural vietnam

... Number of CHCs with available medicines Medicine Number of CHCs with available medicines 18 12 Ibuprofen Codein 10 Morphine 10 11 Penicillin 18 0 0 11 10 18 18 10 18 Erythromycin Amoxicillin Hydrocortison ... Representative Of? ??ce in China: Beijing Viet Nam Prime Minister’s Of? ??ce 2002 Decision 77/ 2002/QD-TTg: ratification of programme of prevention and control of certain noncommunicable diseases for ... readily available) in primary care settings in low-income countries; and they can be managed in typical primary care settings in middle-income and low-income countries Therefore, having a national

Ngày tải lên: 24/10/2022, 12:08

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automatic analysis of selected choroidal diseases in oct images of the eye fundus

automatic analysis of selected choroidal diseases in oct images of the eye fundus

... ciliary-retinal vessels (observed in minority of patients) originating from the choroid which supply the speckle field and protect against loss of central vision, for example in the case of central retinal ... trees The individual processing blocks are described in detail in the paper Page of 17 Koprowski et al BioMedical Engineering OnLine 2013, 12:117 http://www.biomedical-engineering-online.com/content/12/1/117 ... the following frequency of occurrence of choroidal imaging was obtained: the group Z1 included 23% of all cases, the group Z2 included 44% of all cases, and the group Z3 included 33% of all cases

Ngày tải lên: 01/11/2022, 08:58

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Prevention and control of non-communicable diseases in iran: the case for Investment

Prevention and control of non-communicable diseases in iran: the case for Investment

... using the Cost -of- Illness approach 2) Estimating the total costs of implementing clinical and preventive interventions using an ingredient based costing at delivering level and a program costing ... package was arrived at by comparing the impact in terms of gains in GDP of the intervention package with the total costs of setting up and implementing the interventions using the net present value ... decline in the near future, signaling a pressing need for provident planning [5–8] Of the ten leading causes of mortality in the country, eight are classified as NCDs, ischemic heart diseases being

Ngày tải lên: 29/11/2022, 13:47

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Exploring the relationship between lifestyles, diets and genetic adaptations in humans

Exploring the relationship between lifestyles, diets and genetic adaptations in humans

... assumedly involved in the metabolism of substances (including xenobiotics) that gain entry into the organism through dietary food stuffs, can represent instances of gene-culture coevolution in humans ... frequent in farmers comparatively to groups not relying in farming, with the general trend, inferred from the whole set of African and Eurasian populations, pointing to a clinal decrease in frequency ... determined by interactions with dietary salt intake [27,31] Since anthropological evidence indicates that diet of hunting and gathering people is usually characterized by low level of salt intake,

Ngày tải lên: 27/03/2023, 04:52

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Tài liệu From Burden to “Best Buys”: Reducing the Economic Impact of Non-Communicable Diseases in Low- and Middle-Income Countries pdf

Tài liệu From Burden to “Best Buys”: Reducing the Economic Impact of Non-Communicable Diseases in Low- and Middle-Income Countries pdf

... considered in terms of overall health spending, these costs constitute only a tiny portion of total health spending – 4% in low-income countries, 2% in lower middle-income countries and less than 1% in ... average of US$ 11.4 billion per year (Figure 4). This amounts to an annual per capita investment of under US$ 1 in low-income countries, US$ 1.50 in lower middle-income and US$ 3 in upper middle- income ... country income category). The total burden is lowest in the low-income countries, in part because the value of lost earnings in this group is low and in part because the total population of this...

Ngày tải lên: 20/02/2014, 19:20

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