Background SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate
cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex …

Background: Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused
by genetic variants affecting DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and …

Objectives/aims The visceral myopathies (VM) are a group of disorders characterised by
poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts …

We sequenced nine trios in which the probands in an underserved population were affected
by a rare and undiagnosed disorder with neurological features. Sequencing was performed …

Background This scoping review presents existing research evidence regarding diet therapy
in patients with rare diseases (RDs). Methods Using the five‐stage scoping review …

< 簡介> 特發性低促性腺激素性腺功能低下症(Idiopathic hypogonadotropic hypogonadism,
IHH) 是指下視丘至腦垂體結構正常, 病患除促性腺激素低下, 其他腦垂體賀爾蒙功能正常 …

Pathogenic, generally loss-of-function, variants in CACNA1F, encoding the Cav1. 4α1
calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare …

Objective Reference centile charts are widely used for the assessment of growth and have
progressed from describing height and weight to include body composition variables such …

Purpose Myopia (nearsightedness) is a condition in which a refractive error (RE) affects
vision. Although common variants explain part of the genetic predisposition (18%), most of …

The journey of discovering melanoma biomarkers is never ending. Under that assumption,
this study is attempted to partially fill in a gap in that journey by identifying biomarkers …