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Silvana Briuglia

Showing results (11-20 of 53) with videos related to

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Genes|October 29, 2025
Linking Genotype to Clinical Features in <i>SMC1A</i>-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive ReviewMaria Francesca Astorino, Desirèe Speranza, Giovanni Luppino, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 5, 2013
Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?Maria Francesca Messina, Tommaso Aversa, Carmelo Mamì, et al.
Investigative Ophthalmology & Visual Science|February 9, 2018
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?Luigi Donato, Concetta Scimone, Carmela Rinaldi, et al.
Renal Failure|January 21, 2012
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers comparedAntonio Lacquaniti, Valeria Chirico, Valentina Donato, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
Genes|June 24, 2022
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis ProtocolAlessio Ardizzone, Anna Paola Capra, Stefania Mondello, et al.
Biology|November 11, 2022
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy LossAnna Paola Capra, Alessio Ardizzone, Silvana Briuglia, et al.
American Journal of Human Genetics|August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Pediatric Research|October 8, 2004
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathiesLuciana Rigoli, Roberto Chimenz, Chiara di Bella, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 11, 2018
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian FamilyElisa Ferro, Anna Paola Capra, Giuseppina Zirilli, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
Genes|October 29, 2025
Linking Genotype to Clinical Features in <i>SMC1A</i>-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive ReviewMaria Francesca Astorino, Desirèe Speranza, Giovanni Luppino, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 5, 2013
Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?Maria Francesca Messina, Tommaso Aversa, Carmelo Mamì, et al.
Investigative Ophthalmology & Visual Science|February 9, 2018
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?Luigi Donato, Concetta Scimone, Carmela Rinaldi, et al.
Renal Failure|January 21, 2012
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers comparedAntonio Lacquaniti, Valeria Chirico, Valentina Donato, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
Genes|June 24, 2022
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis ProtocolAlessio Ardizzone, Anna Paola Capra, Stefania Mondello, et al.
Biology|November 11, 2022
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy LossAnna Paola Capra, Alessio Ardizzone, Silvana Briuglia, et al.
American Journal of Human Genetics|August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Pediatric Research|October 8, 2004
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathiesLuciana Rigoli, Roberto Chimenz, Chiara di Bella, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 11, 2018
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian FamilyElisa Ferro, Anna Paola Capra, Giuseppina Zirilli, et al.
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