Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

A new interesting article has been published in Hum Mutat. 2019 Dec 4. doi: 10.1002/humu.23963. and titled: Comparison of the functional and structural characteristics of rare TSC2 variants with clinical…

Continue ReadingComparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.

A new interesting article has been published in J Hum Genet. 2019 Dec; 64(12):1187-1194. doi: 10.1038/s10038-019-0674-5. Epub 2019 Oct 7. and titled: Importance of gastric cancer for the diagnosis and…

Continue ReadingImportance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

A new interesting article has been published in Int J Biochem Cell Biol. 2019 Dec; 117:105625. doi: 10.1016/j.biocel.2019.105625. Epub 2019 Oct 3. and titled: A novel disease-causing mutation in the…

Continue ReadingA novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

Exaggerated systolic hypertensive response to exercise predicts cardiovascular events: a systematic review and meta-analysis.

A new interesting article has been published in Pol Arch Intern Med. 2019 Dec 23; 129(12):855-863. doi: 10.20452/pamw.15007. Epub 2019 Oct 2. and titled: Exaggerated systolic hypertensive response to exercise…

Continue ReadingExaggerated systolic hypertensive response to exercise predicts cardiovascular events: a systematic review and meta-analysis.

Automation of human semen analysis using a novel artificial intelligence optical microscopic technology.

A new interesting article has been published in Andrologia. 2019 Dec; 51(11):e13440. doi: 10.1111/and.13440. Epub 2019 Oct 4. and titled: Automation of human semen analysis using a novel artificial intelligence…

Continue ReadingAutomation of human semen analysis using a novel artificial intelligence optical microscopic technology.

Unstimulated high-sensitive thyroglobulin is a powerful prognostic predictor in patients with thyroid cancer.

A new interesting article has been published in Clin Chem Lab Med. 2019 Dec 18; 58(1):130-137. doi: 10.1515/cclm-2019-0654. and titled: Unstimulated high-sensitive thyroglobulin is a powerful prognostic predictor in patients…

Continue ReadingUnstimulated high-sensitive thyroglobulin is a powerful prognostic predictor in patients with thyroid cancer.