ARTICLE
|
doi:10.20944/preprints202309.1877.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
rod-cone dystrophy; retinitis pigmentosa; RP1 gene; founder effect; inherited retinal dystrophies; founder mutation
Online: 27 September 2023 (11:06:58 CEST)
BRIEF REPORT
|
doi:10.20944/preprints202409.0522.v1
Subject:
Medicine And Pharmacology,
Other
Keywords:
Familial hypercholesterolemia; Founder effect; Identical by descent variant
Online: 6 September 2024 (10:26:59 CEST)
ARTICLE
|
doi:10.20944/preprints202305.0784.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
Arrhythmogenic Cardiomyopathy; PKP2; Founder pathogenic variant; Arrhythmic events; Heart Failure
Online: 11 May 2023 (04:38:37 CEST)
ARTICLE
|
doi:10.20944/preprints202112.0473.v1
Subject:
Medicine And Pharmacology,
Pathology And Pathobiology
Keywords:
Fanconi anemia; Chromosome instability; FANCG; splicing; founder pathogenic variant; Mixe indigenous group.
Online: 29 December 2021 (19:28:49 CET)