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MS can cause different patterns of motor disturbances and gait difficulties in all its main clinical phenotypes: relapsing remitting (RRMS), secondary-progressive (SPMS) or primary-progressive MS (PPMS).
Three main clinical phenotypes in humans define AIS: Complete, Partial and Minimal Androgen Insensitivity (CAIS, PAIS and MAIS), and they range from complete lack of virilization of the internal and external genitalia (CAIS), to intermediate virilization (PAIS), to apparently normal virilization in infertile males (MAIS) [1].
mtDNA deletions are associated with three main clinical phenotypes: Kearns Sayre syndrome (KSS), sporadic progressive external ophthalmoplegia (PEO) and Pearson's syndrome.
Ulcerative colitis (UC) and Crohn's disease (CD) are the two main clinical phenotypes of inflammatory bowel disease (IBD), both resulting in chronic and relapsing inflammation.
We assessed the association of psoriasis and its main clinical phenotypes with common variants of three potential psoriasis susceptibility genes: ZNF750, RPTOR and TRAF31P2.
RDDs are usually classified into one of the two main clinical phenotypes – rod degenerative retinitis pigmentosa (RP) and cone or cone-rod dystrophy (CD or CRD, respectively) – that differ in the manner they affect rod versus cone photoreceptors.
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The main clinical phenotype of CIA, arthritis severity, was taken as phenotype.
The main clinical phenotype is characterized by early onset (in the 20s or 30s) of acute CPP crystal arthritis with florid polyarticular CC and variable severity of accompanying structural arthritis/OA.
One possible explanation is that previous studies were focused on identifying single genes with large main effects associated with clinical phenotypes.
A main problem of clinical phenotyping is that the definition is often biased, as mostly only the most dominant disease feature is used for classification [5].
We recently developed a p.R50X knock-in (KI) mouse model that presents with the main clinical features of the McArdle disease phenotype (Nogales-Gadea et al., 2012).
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main functional phenotypes
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main rough phenotypes
main deleterious phenotypes
main clinical needs
main clinical benefits
main clinical results
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com