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Massimo Carella

Showing results (111-120 of 207) with videos related to

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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.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
Stem Cell Research|July 31, 2025
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patientGabriele Trentini, Giulia Cazzanelli, Marina Cardano, et al.
International Journal of Audiology|December 9, 2003
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian familiesFrancesca Di Leva, Adamo Pio D'Adamo, Luiaino Strollo, et al.
Cancer Genetics|January 15, 2023
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletionsDoron Tolomeo, Antonio Agostini, Antonio Giovanni Solimando, et al.
Chinese Journal of Cancer|June 9, 2016
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancerVittoria Disciglio, Andrea Devecchi, Orazio Palumbo, et al.
Biochimica Et Biophysica Acta|November 26, 2008
Are MYO1C and MYO1F associated with hearing loss?Cristina Zadro, Maria Stella Alemanno, Emanuele Bellacchio, et al.
Plos One|March 26, 2013
Differences in gene expression and cytokine release profiles highlight the heterogeneity of distinct subsets of adipose tissue-derived stem cells in the subcutaneous and visceral adipose tissue in humansSebastio Perrini, Romina Ficarella, Ernesto Picardi, et al.
Orphanet Journal of Rare Diseases|November 6, 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsLaura Bernardini, Stefania Gimelli, Cristina Gervasini, et al.
Frontiers in Neurology|July 14, 2023
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora diseaseGiuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, et al.
Pageof 21

Showing results (111-120 of 207) with videos related to

Sort By:
Pageof 21
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.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
Stem Cell Research|July 31, 2025
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patientGabriele Trentini, Giulia Cazzanelli, Marina Cardano, et al.
International Journal of Audiology|December 9, 2003
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian familiesFrancesca Di Leva, Adamo Pio D'Adamo, Luiaino Strollo, et al.
Cancer Genetics|January 15, 2023
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletionsDoron Tolomeo, Antonio Agostini, Antonio Giovanni Solimando, et al.
Chinese Journal of Cancer|June 9, 2016
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancerVittoria Disciglio, Andrea Devecchi, Orazio Palumbo, et al.
Biochimica Et Biophysica Acta|November 26, 2008
Are MYO1C and MYO1F associated with hearing loss?Cristina Zadro, Maria Stella Alemanno, Emanuele Bellacchio, et al.
Plos One|March 26, 2013
Differences in gene expression and cytokine release profiles highlight the heterogeneity of distinct subsets of adipose tissue-derived stem cells in the subcutaneous and visceral adipose tissue in humansSebastio Perrini, Romina Ficarella, Ernesto Picardi, et al.
Orphanet Journal of Rare Diseases|November 6, 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsLaura Bernardini, Stefania Gimelli, Cristina Gervasini, et al.
Frontiers in Neurology|July 14, 2023
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora diseaseGiuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, et al.
Pageof 21