Results 231 to 240 of about 2,140,385 (376)

An Epidemiological and Genetic Study on Registered Diseases in Finnish Ayrshire Cattle [PDF]

, 1986
Yrjö T. Gröhn, Hannu Saloniemi, Jouko Syväjärvi   +2 more
openalex   +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

Kinase Inhibitors in Genetic Diseases. [PDF]

Int J Mol Sci, 2023
D'Antona L, Amato R, Brescia C, Rocca V, Colao E, Iuliano R, Blazer-Yost BL, Perrotti N.   +7 more
europepmc   +1 more source

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

Molecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim, Myunghee Kang, Soyeon Jeong, Jisup Kim, Kyoung Oh Kim, Won‐Suk Lee, Jeong‐Heum Baek, Jung Ho Kim, Seungyoon Nam   +8 more
wiley   +1 more source

Pulsed Field Gel Electrophoresis (PFGE): a DNA finger printing technique to study the genetic diversity of blood disease bacterium of banana

, 1970
Hadiwiyono Hadiwiyono, Jaka Widada, Siti Subandiyah, Mark Fegan   +3 more
openalex   +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, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +6 more
europepmc   +1 more source

Current Status of Next-Generation Sequencing in Bone Genetic Diseases. [PDF]

Int J Mol Sci, 2023
Aida N, Saito A, Azuma T.
europepmc   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

A case of Beauveria bassiana keratitis confirmed by internal transcribed spacer and LSU rDNA D1–D2 sequencing

New Microbes and New Infections, EarlyView., 2014
Abstract We describe a case of fungal keratitis due to Beauveria bassiana in a farmer with Fuchs' dystrophy, treated with amphotericin B. Surgery with penetrating keratoplasty was necessary to resolve the lesions. Susceptibility testing and molecular sequencing permitted the identification and treatment of this rare aetiological agent of invasive ...
M. Ligozzi, L. Maccacaro, M. Passilongo, E. Pedrotti, G. Marchini, R. Koncan, G. Cornaglia, A. R. Centonze, G. Lo Cascio   +8 more
wiley   +1 more source

Genetic Disease. Diagnosis and Treatment. [PDF]

, 1983
Alan Emery
openalex   +1 more source