Results 351 to 360 of about 13,340,828 (402)

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases. [PDF]

J Transl Med
Zeng Y, Ding H, Wang X, Huang Y, Liu L, Du L, Lu J, Wu J, Zeng Y, Mai M, Zhu J, Yu L, He W, Guo F, Peng H, Yao C, Qi Y, Liu Y, Li F, Yang J, Hu R, Liang J, Wang J, Wang W, Zhang Y, Yin A.   +25 more
europepmc   +1 more source

Long read sequencing on its way to the routine diagnostics of genetic diseases. [PDF]

Front Genet
Olivucci G, Iovino E, Innella G, Turchetti D, Pippucci T, Magini P.   +5 more
europepmc   +1 more source

CTGCT, Centre of Excellence for the Technologies of Gene and Cell Therapy: Collaborative translation of scientific discoveries into advanced treatments for neurological rare genetic diseases and cancer. [PDF]

Comput Struct Biotechnol J
Marolt Presen D, Lainšček D, Kinghorn J, Sebestyen Z, Kuball J, Amini L, Reinke P, Fuchs A, Jerala R, Benčina M.   +9 more
europepmc   +1 more source

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Genetic diseases.

Clinical Chemistry and Laboratory Medicine (CCLM)

semanticscholar   +3 more sources

Theory Development of Genetic Counseling among Patient with Genetic Diseases

, 2020
Genetic Counseling is a communication process undertaken to address the issue of genetic diseases affected in the family. The basic concept of Selfcare is active awareness, while genetic counseling is passive awareness.
Henri Setiawan, Suhanda Suhanda, Elis Roslianti, Andan Firmansyah   +3 more
semanticscholar   +1 more source

The genetics of complex diseases

Trends in Cell Biology, 1999
Genetic factors influence virtually every human disorder, determining disease susceptibility or resistance and interactions with environmental factors. Our recent successes in the genetic mapping and identification of the molecular basis of mendelian traits have been remarkable.
Glenys Thomson, Michael S. Esposito
openaire   +3 more sources

Genetics of celiac disease

Best Practice & Research Clinical Gastroenterology, 2015
New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci associated to CeD, and for follow-up functional genomics ...
Isis Ricaño-Ponce, Cisca Wijmenga, Javier Gutierrez-Achury   +2 more
openaire   +4 more sources

Genetics of Dupuytren's disease

Joint Bone Spine, 2012
Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia, Lermusiaux, Jean-Luc, Teyssedou, Jean-Pierre, Bardin, Thomas, Beaudreuil, Johann, Petit-Teixeira, Elisabeth   +5 more
openaire   +3 more sources

The Variability of Genetic Disease

New England Journal of Medicine, 2012
It is never boring to be a physician because patients are so different. Each patient has a story to tell, and few have disorders that match textbook descriptions. By the same token, we need to be careful when predicting the future for our patients, and finding the appropriate therapy is often a matter of trial and error as much as science and protocol.
openaire   +4 more sources