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UnknownInvestigation of the genetic aetiology of Lewy body diseases with and without dementia.
Not available
S-EPMC11228432 | biostudies-literature
UnknownThe effect of LRRK2 loss-of-function variants in humans.
Not available
S-EPMC7303015 | biostudies-literature
UnknownStereoacuity in children with anisometropic amblyopia.
Not available
S-EPMC3223370 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
GenomicsPS
Psoriasis cases as part of WTCCC2 phase 2
EGAD00010000124 | EGA
GenomicsGenome wide association scan in psoriasis
To identify novel susceptibility loci for psoriasis, we undertook a genome-wide association scan of of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls.
EGAS00000000108 | EGA
UnknownSt. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem.
Not available
S-EPMC8102307 | biostudies-literature
UnknownThe draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus).
Not available
S-EPMC2836516 | biostudies-literature
UnknownClinical Characteristics and Outcomes of Central Nervous System Tumors Harboring NTRK Gene Fusions.
Not available
S-EPMC11788648 | biostudies-literature
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