Results 81 to 90 of about 5,499,417 (372)

Webcast courses in Medical Genetics and next generation sequencing [PDF]

open access: yes, 2013
The European School of Genetic Medicine organised the 26th Course in Medical Genetics and the 2nd Course in Next Generation Sequencing, between the 12th and 20th May 2013.
Borg, Isabella
core  

Linking genetics with biology in disease research: an interview with Nick Hastie [PDF]

open access: yes, 2012
Professor Nick Hastie is Director of the MRC Human Genetics Unit in Edinburgh, a centre originally famous for early studies of chromosome biology. He is also Director of the newly formed Institute of Genetics and Molecular Medicine, which includes the ...
Allan, Sarah, Hastie, Nick
core   +3 more sources

Circulating histones as clinical biomarkers in critically ill conditions

open access: yesFEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez   +17 more
wiley   +1 more source

Molecular genetics of suicide

open access: yesZdravniški Vestnik, 2006
Background: Suicide is a complex phenomenon that is triggered by environmental factors, and probably partially also by genetic code. Genetic studies performed on suicide brain contributed interesting findings on serotonergic, dopaminergic and ...
Alja Videtič, Galina Pungerčič
doaj  

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

open access: yesHuman Genetics, 2013
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
P. Stenson   +5 more
semanticscholar   +1 more source

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

open access: yesFEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao   +7 more
wiley   +1 more source

PPM1G promotes cell proliferation via modulating mutant GOF p53 protein expression in hepatocellular carcinoma

open access: yesiScience
Summary: The serine/threonine protein phosphatase family involves series of cellular processes, such as pre-mRNA splicing. The function of one of its members, protein phosphatase, Mg2+/Mn2+ dependent 1G (PPM1G), remains unclear in hepatocellular ...
Wen Hu   +10 more
doaj   +1 more source

Molecular Genetics of Stroke

open access: yesSiriraj Medical Journal, 2008
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Manop Pithukpakorn
doaj  

Metagenomics for Bacteriology [PDF]

open access: yes, 2015
The study of bacteria, or bacteriology, has gone through transformative waves since its inception in the 1600s. It all started by the visualization of bacteria using light microscopy by Antonie van Leeuwenhoek, when he first described “animalcules ...
del Castillo, Erika, Izard, Jacques
core   +1 more source

Understanding the Molecular Genetics of Basal Cell Carcinoma

open access: yesInternational Journal of Molecular Sciences, 2017
Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog ...
C. Pellegrini   +5 more
semanticscholar   +1 more source

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