Results 121 to 130 of about 2,406,008 (205)

Genetic diseases underlying a spectrum of fetal effusions. [PDF]

Am J Obstet Gynecol
Gulrajani NB, Lianoglou BR, Tick K, Sahin-Hodoglugil NN, Hodoglugil U, Devine P, Van Ziffle J, Norton ME, Sparks TN.   +8 more
europepmc   +1 more source

Genetics in cardiovascular disease

Heart Views, 2020
openaire   +3 more sources

From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases. [PDF]

Genes (Basel)
Rodriguez Carstens P, Moriyama H, Yokota T.   +2 more
europepmc   +1 more source

Biomedical applications of organoids in genetic diseases. [PDF]

Med Rev (2021)
Huang W, Jeong S, Kim W, Chen L.
europepmc   +1 more source

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

Frontiers in Genetics
Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli   +5 more
doaj   +1 more source

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases. [PDF]

NPJ Digit Med
Alsentzer E, Li MM, Kobren SN, Noori A, Undiagnosed Diseases Network, Kohane IS, Zitnik M.   +6 more
europepmc   +1 more source

Gene therapy for genetic diseases: challenges and future directions. [PDF]

MedComm (2020)
Qie B, Tuo J, Chen F, Ding H, Lyu L.
europepmc   +1 more source

An explainable dataset linking facial phenotypes and genes to rare genetic diseases. [PDF]

Sci Data
Song J, He M, Ren S, Shen B.
europepmc   +1 more source

Next-generation sequencing (NGS) techniques for pre-symptomatic identification of genetic diseases in newborns. [PDF]

Cochrane Database Syst Rev
Pessano S, Boldor M, Faravelli F, Fiander M, Jørgensen KJ, Soll RF, Bruschettini M.   +6 more
europepmc   +1 more source

Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential Significance in the Early Screening of Genetic Diseases. [PDF]

Clin Cosmet Investig Dermatol
Chen T, Wu J, Yang X, Xia Z, Yang R.
europepmc   +1 more source