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rare variation

A Rare Variation of the Heterotaxy Syndrome

A Rare Variation of the Heterotaxy Syndrome

... a rare, complex, and confusing type of the situs ...rotational variation in these types of ...this rare variation consist of right-hand-sided aorta, aortic arc, cardiac apex, gall bladder and ...

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Anatomy of the Brachial Plexus: A Rare Variation in the Laboratory of Anatomy of Bamako (Mali)

Anatomy of the Brachial Plexus: A Rare Variation in the Laboratory of Anatomy of Bamako (Mali)

... Traoré, D., Bengaly, B., Daou, M., Couliba- ly, B., Ouattara, D., Diallo, S., Diakité, S., Koné, M., Touré, T., Diallo, C.T., Touré, O.I., Togola, B. and Ongoïba, N. (2019) Anatomy of the Brachial Plexus: A Rare ...

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Successful preterm pregnancy in a rare variation of Herlyn Werner Wunderlich syndrome: a case report

Successful preterm pregnancy in a rare variation of Herlyn Werner Wunderlich syndrome: a case report

... a rare congenital anomaly of the female genital tract, char- acterised by the triad of uterus didelphys, blind hemiva- gina, and ipsilateral renal agenesis [1, ...

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An Unusual and Previously Unreported Association between Tyrosinemia Type 1 and an Extremely Rare Variation of Congenital Cystic Dilatation: TODANI’s VI Cystic Duct Cyst: Report of a Case

An Unusual and Previously Unreported Association between Tyrosinemia Type 1 and an Extremely Rare Variation of Congenital Cystic Dilatation: TODANI’s VI Cystic Duct Cyst: Report of a Case

... Cystic duct cysts are rare lesions, and type VI of TODANI’s modified classification is the rarest subtype with only sporadic case reports in the literature. The following re- port describes the coexistence of this ...

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The Pectoral Branch Arising from the Subscapular Artery: Case Report of a Rare Variation

The Pectoral Branch Arising from the Subscapular Artery: Case Report of a Rare Variation

... Based on these criteria, to the best of our knowledge, this is the first report to introduce a subscapular artery containing the pectoral branch of the thoracoacromial artery, the circum[r] ...

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Suprascapular foramen: a rare variation caused by ossified suprascapular ligaments

Suprascapular foramen: a rare variation caused by ossified suprascapular ligaments

... Avery et al. [2] discovered that the anterior coraco- scapular ligament (ACSL) might have been supposed as a new possible mechanism for the formation of this anatomical variation. Polguj et al. [38] observed the ...

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Common and separate origins of the left and right inferior phrenic artery with a review of the literature

Common and separate origins of the left and right inferior phrenic artery with a review of the literature

... a rare variation was found in the gastrophrenic trunk (GPT), the common trunk of the left gastric artery (LGA), right inferior phrenic artery (RIPA), and left inferior phrenic artery (LIPA); the GPT arises ...

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HIGH ORIGIN OF ABERRENT ULNAR ARTERY – A CASE REPORT .......

HIGH ORIGIN OF ABERRENT ULNAR ARTERY – A CASE REPORT .......

... a rare variation where the artery takes origin either from axillary artery or from brachi- al artery in axilla or arm correspondingly and runs a superficial course in the forearm and ends by participating ...

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An abundance of rare functional variants.pdf

An abundance of rare functional variants.pdf

... of variation for 202 drug tar- get genes and insight into the very rare spectrum of ...of rare variation in human populations and that sur- veys of common variants are only observing a small ...

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Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

... identify rare variation influencing LOAD, we performed analyses of WGS data in NHW families multiply affected for ...of rare coding variants, focusing on AD candidate loci identified in ...for ...

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Performance of case-control rare copy number variation annotation in classification of autism

Performance of case-control rare copy number variation annotation in classification of autism

... case-control rare CNV data-sets; the features we found to be optimal for ASD are likely to perform well for other neurodevelopmental and neuropsychiatric disorders ...of rare variation for neuronal ...

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A weighted accumulation test for associating rare genetic variation with quantitative phenotypes

A weighted accumulation test for associating rare genetic variation with quantitative phenotypes

... Currently there is a great deal of interest in developing methods for testing the role that rare variation plays in disease development. Here we propose a weighted association test that accumulates genetic ...

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A rare combined variation of the coeliac trunk, renal and testicular vasculature

A rare combined variation of the coeliac trunk, renal and testicular vasculature

... a rare variation of the coeliac trunk, renal and testicular vasculature in a 27-year- old male ...trunk variation, to our knowledge, has never been reported before and this variation combined ...

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Sequence Variation of Rare Outer Membrane Protein β Barrel Domains in Clinical Strains Provides Insights into the Evolution of Treponema pallidum subsp  pallidum, the Syphilis Spirochete

Sequence Variation of Rare Outer Membrane Protein β Barrel Domains in Clinical Strains Provides Insights into the Evolution of Treponema pallidum subsp pallidum, the Syphilis Spirochete

... sequence variation recapitulates the vertical evolution of the bacterium ...sequence variation of OMPs to enhance environmental fitness, virulence, and immune evasion plays a central role in the evolution ...

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A Framework for Protein-Level Interpretation of Genetic Associations and Integration With Large-Scale DNA Sequencing Analysis

A Framework for Protein-Level Interpretation of Genetic Associations and Integration With Large-Scale DNA Sequencing Analysis

... Next step is identification of genotypes in both affected and non-affected individuals. Methods, like linkage studies and GWAS were successful in identification of the risk loci, however, they do not have sufficient ...

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Regions and resources

Regions and resources

... My approach was to sample the study area and assess a the range of variation among site types and within a site type, b the common and rare forms of this variation, c the degree of compl[r] ...

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Incidence of Recurrent Laryngeal Nerve Palsy in Thyroidectomy-Identification Versus Non Identification of Recurrent Laryngeal Nerve

Incidence of Recurrent Laryngeal Nerve Palsy in Thyroidectomy-Identification Versus Non Identification of Recurrent Laryngeal Nerve

... Variation: An very rare anomaly that is of relevance to laryngeal pathology and surgery is the so-called ‘non-recurrent’ laryngeal nerve, where the right recurrent laryngeal nerve arises[r] ...

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Allozyme Variation in Hellianthus Praecox Ssp. Hirtus, A Rare Sunflower from Southern Texas

Allozyme Variation in Hellianthus Praecox Ssp. Hirtus, A Rare Sunflower from Southern Texas

... relatively restricted in distribution, are more consistent with the predicted level of genetic variation based on limited geographic distribution. In summary, if isozyme loci are used [r] ...

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Rare frequency of gene variation and survival analysis in thymic epithelial tumors

Rare frequency of gene variation and survival analysis in thymic epithelial tumors

... Patients with advanced/ metastatic thymoma or thymic carcinoma benefited from mammalian target of rapamycin inhibitor-based therapy in a Phase I study with a median time to treat[r] ...

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Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

... every rare disease is rare. However, together rare diseases are ...a rare disease in their lifetime [2]. Rare dis- ease diagnosis remains a challenge for patients, doctors, and ...

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