Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population. [PDF]
Int J Mol SciTabassum I, Shafique M, Akhtar MS.
europepmc +1 more source
TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study. [PDF]
JMIR Form ResWahman JM, Hijazi RM, Abdelhady HG.
europepmc +1 more source
Editorial - Patient perspectives on new therapies for genetic diseases. [PDF]
Med GenetElbracht M, Zweier C, Krey-Grauert I.
europepmc +1 more source
Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study. [PDF]
Orphanet J Rare DisLudwig M +6 more
europepmc +1 more source
Advances in Laboratory Methodologies and Biological Matrices for the Study and Management of Rare Ocular Genetic Diseases. [PDF]
CellsD'Esposito F +8 more
europepmc +1 more source
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases. [PDF]
Clin Transl SciAllen JD, Duong BQ, Brady J, Arn P.
europepmc +1 more source
Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisVeitia RA, Zschocke J, Birchler JA.
europepmc +1 more source
Therapeutic Application of mRNA for Genetic Diseases. [PDF]
Wiley Interdiscip Rev Nanomed NanobiotechnolSchürmann PJL +6 more
europepmc +1 more source
Diagnosis and treatment of complement-mediated thrombotic microangiopathies: consensus of the Genetic Diseases Committee of the Chilean Society of Nephrology. [PDF]
BMC NephrolMusalem P +7 more
europepmc +1 more source
Genetic Diseases of Fucosylation: Insights from Model Organisms. [PDF]
Genes (Basel)Ameen MT, French CR.
europepmc +1 more source