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Giuseppe Merla

Showing results (11-20 of 129) with videos related to

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Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Circulation. Cardiovascular Genetics|December 20, 2012
Supravalvular aortic stenosis: elastin arteriopathyGiuseppe Merla, Nicola Brunetti-Pierri, Pasquale Piccolo, et al.
Frontiers in Genetics|January 12, 2019
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel PatientNatascia Malerba, Shelley Towner, Katherine Keating, et al.
Archivos Argentinos De Pediatria|February 26, 2014
[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]María Soledad Andersen, Sebastián Menazzi, Paloma Brun, et al.
International Journal of Molecular Sciences|July 29, 2023
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of CancersFabio Coppedè, Utsa Bhaduri, Andrea Stoccoro, et al.
Pediatric Blood & Cancer|May 28, 2019
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrumMarcello Scala, Giovanni Morana, Angela R Sementa, et al.
Plos Computational Biology|February 10, 2011
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeCharlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, et al.
Journal of Human Genetics|April 18, 2007
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaLucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, et al.
Genes|October 14, 2020
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in <i>KANSL1</i>Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, et al.
Oncotarget|October 22, 2014
MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesisKatia Danza, Simona De Summa, Rosamaria Pinto, et al.
Pageof 13

Showing results (11-20 of 129) with videos related to

Sort By:
Pageof 13
Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Circulation. Cardiovascular Genetics|December 20, 2012
Supravalvular aortic stenosis: elastin arteriopathyGiuseppe Merla, Nicola Brunetti-Pierri, Pasquale Piccolo, et al.
Frontiers in Genetics|January 12, 2019
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel PatientNatascia Malerba, Shelley Towner, Katherine Keating, et al.
Archivos Argentinos De Pediatria|February 26, 2014
[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]María Soledad Andersen, Sebastián Menazzi, Paloma Brun, et al.
International Journal of Molecular Sciences|July 29, 2023
DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of CancersFabio Coppedè, Utsa Bhaduri, Andrea Stoccoro, et al.
Pediatric Blood & Cancer|May 28, 2019
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrumMarcello Scala, Giovanni Morana, Angela R Sementa, et al.
Plos Computational Biology|February 10, 2011
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeCharlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, et al.
Journal of Human Genetics|April 18, 2007
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaLucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, et al.
Genes|October 14, 2020
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in <i>KANSL1</i>Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, et al.
Oncotarget|October 22, 2014
MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesisKatia Danza, Simona De Summa, Rosamaria Pinto, et al.
Pageof 13