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Alessandro Stella

Showing results (31-40 of 48) with videos related to

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European Journal of Internal Medicine|February 8, 2026
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF)Nour Jaber, Mohamad Khalil, Hala Abdallah, et al.
Familial Cancer|February 3, 2011
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutationPatrizia Lastella, Margherita Patruno, Giovanna Forte, et al.
European Journal of Internal Medicine|May 14, 2023
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern ItalyAgostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, et al.
Thyroid : Official Journal of the American Thyroid Association|September 1, 2011
Papillary thyroid carcinoma in Peutz-Jeghers syndromeVincenzo Triggiani, Edoardo Guastamacchia, Giuseppina Renzulli, et al.
Human Pathology|August 10, 2014
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stageDaria Carmela Loconte, Margherita Patruno, Patrizia Lastella, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective studyPaola Pierucci, Gennaro M Lenato, Patrizia Suppressa, et al.
Italian Journal of Pediatrics|May 29, 2020
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonateMaria Pia Leone, Pietro Palumbo, Orazio Palumbo, et al.
Genes, Chromosomes & Cancer|July 2, 2022
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathiesAlessandro Mussa, Antonella Turchiano, Simona Cardaropoli, et al.
International Journal of Molecular Sciences|April 23, 2022
Metabolomic Approaches for Detection and Identification of Biomarkers and Altered Pathways in Bladder CancerNicola Antonio di Meo, Davide Loizzo, Savio Domenico Pandolfo, et al.
International Journal of Molecular Sciences|November 26, 2022
Renal Cell Carcinoma as a Metabolic Disease: An Update on Main Pathways, Potential Biomarkers, and Therapeutic TargetsNicola Antonio di Meo, Francesco Lasorsa, Monica Rutigliano, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
European Journal of Internal Medicine|February 8, 2026
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF)Nour Jaber, Mohamad Khalil, Hala Abdallah, et al.
Familial Cancer|February 3, 2011
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutationPatrizia Lastella, Margherita Patruno, Giovanna Forte, et al.
European Journal of Internal Medicine|May 14, 2023
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern ItalyAgostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, et al.
Thyroid : Official Journal of the American Thyroid Association|September 1, 2011
Papillary thyroid carcinoma in Peutz-Jeghers syndromeVincenzo Triggiani, Edoardo Guastamacchia, Giuseppina Renzulli, et al.
Human Pathology|August 10, 2014
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stageDaria Carmela Loconte, Margherita Patruno, Patrizia Lastella, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective studyPaola Pierucci, Gennaro M Lenato, Patrizia Suppressa, et al.
Italian Journal of Pediatrics|May 29, 2020
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonateMaria Pia Leone, Pietro Palumbo, Orazio Palumbo, et al.
Genes, Chromosomes & Cancer|July 2, 2022
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathiesAlessandro Mussa, Antonella Turchiano, Simona Cardaropoli, et al.
International Journal of Molecular Sciences|April 23, 2022
Metabolomic Approaches for Detection and Identification of Biomarkers and Altered Pathways in Bladder CancerNicola Antonio di Meo, Davide Loizzo, Savio Domenico Pandolfo, et al.
International Journal of Molecular Sciences|November 26, 2022
Renal Cell Carcinoma as a Metabolic Disease: An Update on Main Pathways, Potential Biomarkers, and Therapeutic TargetsNicola Antonio di Meo, Francesco Lasorsa, Monica Rutigliano, et al.
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