Results 131 to 140 of about 2,406,008 (205)

Author Correction: Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs. [PDF]

Commun Biol
Baylot V, Le TK, Taïeb D, Rocchi P, Colleaux L.   +4 more
europepmc   +1 more source

SV4GD: a comprehensive structural variation database specially for genetic diseases. [PDF]

Nucleic Acids Res
Shi L, Zhang S, Li Y, Li H, Wang X, Du M, Zhang M, Ke L, Zhang Y, Xu C, Tan S, Zhang Z, Zhang D, Wang J, Qi C, Liu X, Wang X, Qian K, Cheng L, Zhang X.   +19 more
europepmc   +1 more source

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review. [PDF]

Genes (Basel)
Gozdek M, Mucha S, Prostek A, Sadkowski T.   +3 more
europepmc   +1 more source

Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review. [PDF]

J Am Med Inform Assoc
Harris WR, Hernandez MS, Ngo KNH, Fladger A, Brunette CA, Hamarneh SR, Knowles JW, Lebo MS, Vassy JL.   +8 more
europepmc   +1 more source

Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

J Med Internet Res
Davis C, Bogaert L, Powell J, Low K.
europepmc   +1 more source

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study. [PDF]

Front Oral Health
Trezena S, Martelli DRB, Bonan PRF, Graner E, Sobrinho LMF, Alawi F, Coletta RD, Martelli-Júnior H.   +7 more
europepmc   +1 more source

Proteome-wide prediction of the mode of inheritance and molecular mechanisms underlying genetic diseases using structural interactomics. [PDF]

iScience
Saadat A, Fellay J.
europepmc   +1 more source

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis. [PDF]

Orphanet J Rare Dis
Garrison SR, Siegel IJ, Takala CR, Vaithilingam SL, Yang GW, Zoghbi AW, Hartig MM, Vadapalli S, Anderson ME.   +8 more
europepmc   +1 more source

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +1 more source

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis. [PDF]

Eur J Hum Genet
Schofield D, Lee E, Parmar J, Castelo Taboada A, Hobbs M, Laing N, Shrestha R.   +6 more
europepmc   +1 more source