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Nicola Bedoni

Showing results (1-10 of 13) with videos related to

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Scientific Reports|November 11, 2020
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesArash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, et al.
Plos Pathogens|August 17, 2013
acr-23 Encodes a monepantel-sensitive channel in Caenorhabditis elegansLucien Rufener, Nicola Bedoni, Roland Baur, et al.
Scientific Reports|May 20, 2015
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndromeSilvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, et al.
Journal of Medical Genetics|January 30, 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?Marie-Anne Morren, Heidi Fodstad, Hilde Brems, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Investigative Ophthalmology & Visual Science|June 28, 2019
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways InhibitionIkram El Zaoui, Maya Bucher, Donata Rimoldi, et al.
European Journal of Medical Genetics|September 26, 2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutationClaire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Nature Communications|January 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataMathieu Quinodoz, Virginie G Peter, Nicola Bedoni, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Scientific Reports|November 11, 2020
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesArash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, et al.
Plos Pathogens|August 17, 2013
acr-23 Encodes a monepantel-sensitive channel in Caenorhabditis elegansLucien Rufener, Nicola Bedoni, Roland Baur, et al.
Scientific Reports|May 20, 2015
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndromeSilvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, et al.
Journal of Medical Genetics|January 30, 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?Marie-Anne Morren, Heidi Fodstad, Hilde Brems, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Investigative Ophthalmology & Visual Science|June 28, 2019
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways InhibitionIkram El Zaoui, Maya Bucher, Donata Rimoldi, et al.
European Journal of Medical Genetics|September 26, 2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutationClaire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Nature Communications|January 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataMathieu Quinodoz, Virginie G Peter, Nicola Bedoni, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Pageof 2