Results 11 to 20 of about 1,156,853 (299)
Penetrance of Deleterious Clinical Variants. [PDF]
JAMA, 2022 Bastarache L, Peterson JF.
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Penetrance of Deleterious Clinical Variants-Reply. [PDF]
JAMA, 2022 Forrest IS, Nadkarni GN, Do R.
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Clinical variants of pityriasis rosea. [PDF]
World J Clin Cases, 2017 Pityriasis rosea (PR) is a common erythemato-squamous dermatosis which almost always, is easily diagnosed. Mostly the disease presents in its classical form. However, clinical dermatology is all about variations and PR is not an exception. Variants of the disease in some cases may be troublesome to diagnose and confuse clinicians.
Urbina F, Das A, Sudy E.
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Transcriptomic differences in MSA clinical variants. [PDF]
Sci Rep, 2020 AbstractBackground: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C). Objective: To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene ...
Pérez-Soriano A +10 more
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Clinical variants of lichen planus [PDF]
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2013 SummaryLichen planus is characterized by lichenoid, polygonal papules with fine white lines, called Wickham striae. Lesions most commonly occur on the limbs and on the dorsal aspect of the trunk. At the same time often leukoplakia of mucous membranes as well as nail disorders are seen.There are numerous variants of lichen planus which can be ...
Gunnar, Wagner +2 more
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Clinical Interpretation of Sequence Variants
Current Protocols in Human Genetics, 2020 AbstractClinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic testing results. Application of next‐generation sequencing technology in molecular genetic testing has facilitated diagnoses of genetic disorders in clinical practice.
Junyu, Zhang +3 more
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Clinical Variants of Guillain-Barré Syndrome
Apollo Medicine, 2008 The Guillain-Barre syndrome (GBS) is a postinfectious polyneuropathy that causes demyelination in mainly motor and sometimes in sensory nerves [1]. At times diagnostic dilemma is faced when a case presents with atypical features (variants) of G B Syndrome.
Vineet B Gupta, Meetu R Gupta
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Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines [PDF]
, 2013 The potential clinical utility of genetic markers associated with response to fluoropyrimidine treatment in colorectal cancer patients remains controversial despite extensive study.
A Fariña-Sarasqueta +59 more
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Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]
, 2020 Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro +44 more
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БИЛИАРНАЯ ПАТОЛОГИЯ И ЕЕ КЛИНИЧЕСКИЕ «МАСКИ ». Часть 2
Архивъ внутренней медицины, 2012 The article gives systematicaly organized literature data and the author’s observations of different biliar tract disorder variants. The focus is on the comorbidity formation mechanisms analysis and the difficulties in differential diagnostics of various
Е. Ю. Еремина
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