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BMC Bioinformatics|June 30, 2017
SLMSuite: a suite of algorithms for segmenting genomic profilesValerio Orlandini, Aldesia Provenzano, Sabrina Giglio, et al.Human Mutation|December 12, 2007
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomasRoberta Sestini, Costanza Bacci, Aldesia Provenzano, et al.Genetic Testing|June 17, 2008
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysisRoberta Sestini, Aldesia Provenzano, Costanza Bacci, et al.Journal of Nephrology|May 23, 2016
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?Francesca Becherucci, Benedetta Mazzinghi, Aldesia Provenzano, et al.Clinical Case Reports|August 15, 2015
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusionGiovanna Traficante, Roberto Biagiotti, Elena Andreucci, et al.Biomed Research International|September 27, 2018
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeElena Sticchi, Rosina De Cario, Alberto Magi, et al.Journal of Diabetes|April 24, 2021
A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemiaDimitrios T Papadimitriou, Emmanouil Manolakos, Eleni Dermitzaki, et al.Journal of Clinical Medicine|July 27, 2022
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in FemalesAldesia Provenzano, Andrea La Barbera, Francesco Lai, et al.Neurogenetics|July 8, 2009
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutationCostanza Bacci, Roberta Sestini, Aldesia Provenzano, et al.Diagnostics (Basel, Switzerland)|October 23, 2021
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver DisorderAldesia Provenzano, Antonio Farina, Anna Seidenari, et al.Pageof 3