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Thomas Rio Frio

Showing results (1-10 of 28) with videos related to

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BMC Pediatrics|June 4, 2026
Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girlGrace S Kurian, Thomas Rio Frio, Isabelle Ruchonnet-Métrailler, et al.
Human Molecular Genetics|July 22, 2008
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutationsThomas Rio Frio, Natacha Civic, Adriana Ransijn, et al.
Revue Medicale Suisse|July 2, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives]Henri Margot, Michel Guipponi, Thomas Rio Frio, et al.
The Journal of Clinical Investigation|March 5, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decayThomas Rio Frio, Nicholas M Wade, Adriana Ransijn, et al.
Human Mutation|May 19, 2006
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutationsCarlo Rivolta, Terri L McGee, Thomas Rio Frio, et al.
Molecular Vision|December 17, 2009
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaThomas Rio Frio, Sylwia Panek, Christian Iseli, et al.
Clinical Genetics|January 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Omar Zgheib, Thomas Rio-Frio, Michel Guipponi, et al.
Journal of Human Genetics|September 17, 2010
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer familiesThomas Rio Frio, Maria Haanpää, Carly Pouchet, et al.
Human Mutation|July 21, 2009
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceThomas Rio Frio, Terri L McGee, Nicholas M Wade, et al.
Cell Stem Cell|November 27, 2015
Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during AgingKatarzyna Siudeja, Sonya Nassari, Louis Gervais, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
BMC Pediatrics|June 4, 2026
Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girlGrace S Kurian, Thomas Rio Frio, Isabelle Ruchonnet-Métrailler, et al.
Human Molecular Genetics|July 22, 2008
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutationsThomas Rio Frio, Natacha Civic, Adriana Ransijn, et al.
Revue Medicale Suisse|July 2, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives]Henri Margot, Michel Guipponi, Thomas Rio Frio, et al.
The Journal of Clinical Investigation|March 5, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decayThomas Rio Frio, Nicholas M Wade, Adriana Ransijn, et al.
Human Mutation|May 19, 2006
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutationsCarlo Rivolta, Terri L McGee, Thomas Rio Frio, et al.
Molecular Vision|December 17, 2009
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaThomas Rio Frio, Sylwia Panek, Christian Iseli, et al.
Clinical Genetics|January 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Omar Zgheib, Thomas Rio-Frio, Michel Guipponi, et al.
Journal of Human Genetics|September 17, 2010
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer familiesThomas Rio Frio, Maria Haanpää, Carly Pouchet, et al.
Human Mutation|July 21, 2009
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceThomas Rio Frio, Terri L McGee, Nicholas M Wade, et al.
Cell Stem Cell|November 27, 2015
Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during AgingKatarzyna Siudeja, Sonya Nassari, Louis Gervais, et al.
Pageof 3