Results 141 to 150 of about 2,406,008 (205)

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China. [PDF]

Sci Rep
Pan L, Luo H, Huang T, Yuan H, Zou Y, Lu Q, Zeng B, Ma P, Yang Y, Huang T, Liu D, Yang B, Liu Y, Zou J, Fu F.   +14 more
europepmc   +1 more source

Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases. [PDF]

Nucleic Acids Res
Lu JL, Dai Y, Ji K, Peng GX, Li H, Yan C, Shen B, Zhou XL.   +7 more
europepmc   +1 more source

Diagnostic Accuracy and Chromosomal Microarray and Karyotype Analysis with Different Clinical Biomarkers for Prenatal Diagnosis of Fetal Genetic Diseases. [PDF]

Iran J Public Health
Cai F, Shen R, Wang H, Zheng Y, Zhang W, Jin L.   +5 more
europepmc   +1 more source

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. [PDF]

BMC Med Inform Decis Mak
Shin J, Fujiwara T, Saitsu H, Yamaguchi A.   +3 more
europepmc   +1 more source

Genetic Disease & Gene Regulation

Journal of Investigative Dermatology, 2015
openaire   +2 more sources

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network. [PDF]

Am J Med Genet A
Gimeno AF, Tinker RJ, Furuta Y, Undiagnosed Diseases Network, Phillips JA.   +4 more
europepmc   +1 more source

A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. [PDF]

Nat Commun
Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T.   +14 more
europepmc   +1 more source

Editorial: Molecular underpinnings of genetic and rare diseases: from diagnostic tools to therapeutic approaches

Frontiers in Molecular Biosciences
Abhilash Kumar Tripathi
doaj   +1 more source

The development and the genetic diseases of the ciliary body. [PDF]

Cell Insight
Li B, Xie T, Nawy S, Shen Y.
europepmc   +1 more source

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Chi D, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +7 more
europepmc   +1 more source