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Isabella Ceccherini

Showing results (51-60 of 180) with videos related to

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Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 1, 2002
Glomerulocystic kidney disease in a familyRosanna Gusmano, Gianluca Caridi, Monica Marini, et al.
Physiological Genomics|September 8, 2005
Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locusFrancesca Puppo, Marco Musso, Doroti Pirulli, et al.
Human Mutation|November 4, 2017
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndromeSimona Di Lascio, Roberta Benfante, Eleonora Di Zanni, et al.
Clinical and Experimental Rheumatology|October 23, 2013
A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromesAntonella Insalaco, Giusi Prencipe, Paola Sabrina Buonuomo, et al.
American Journal of Respiratory and Critical Care Medicine|March 9, 2010
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and managementDebra E Weese-Mayer, Elizabeth M Berry-Kravis, Isabella Ceccherini, et al.
Pediatric Nephrology (Berlin, Germany)|April 9, 2021
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung diseaseAlessio Pini Prato, Rossella Arnoldi, Ilaria Falconi, et al.
FEBS Letters|July 19, 2002
Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expressionFrancesca Puppo, Paola Griseri, Mirco Fanelli, et al.
Frontiers in Medicine|November 15, 2021
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the LiteraturePaola Borgia, Riccardo Papa, Matteo D'Alessandro, et al.
Human Mutation|December 25, 2007
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation SyndromeSara Parodi, Tiziana Bachetti, Francesca Lantieri, et al.
Pageof 18

Showing results (51-60 of 180) with videos related to

Sort By:
Pageof 18
Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 1, 2002
Glomerulocystic kidney disease in a familyRosanna Gusmano, Gianluca Caridi, Monica Marini, et al.
Physiological Genomics|September 8, 2005
Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locusFrancesca Puppo, Marco Musso, Doroti Pirulli, et al.
Human Mutation|November 4, 2017
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndromeSimona Di Lascio, Roberta Benfante, Eleonora Di Zanni, et al.
Clinical and Experimental Rheumatology|October 23, 2013
A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromesAntonella Insalaco, Giusi Prencipe, Paola Sabrina Buonuomo, et al.
American Journal of Respiratory and Critical Care Medicine|March 9, 2010
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and managementDebra E Weese-Mayer, Elizabeth M Berry-Kravis, Isabella Ceccherini, et al.
Pediatric Nephrology (Berlin, Germany)|April 9, 2021
Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung diseaseAlessio Pini Prato, Rossella Arnoldi, Ilaria Falconi, et al.
FEBS Letters|July 19, 2002
Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expressionFrancesca Puppo, Paola Griseri, Mirco Fanelli, et al.
Frontiers in Medicine|November 15, 2021
Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the LiteraturePaola Borgia, Riccardo Papa, Matteo D'Alessandro, et al.
Human Mutation|December 25, 2007
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation SyndromeSara Parodi, Tiziana Bachetti, Francesca Lantieri, et al.
Pageof 18