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Eva Trevisson

Showing results (71-80 of 86) with videos related to

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American Journal of Human Genetics|May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
The Journal of Clinical Investigation|June 13, 2024
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammalsAnais Franco-Romero, Valeria Morbidoni, Giulia Milan, et al.
Molecular Genetics and Metabolism Reports|January 6, 2025
Identification of a new <i>COQ4</i> spliceogenic variant causing severe primary coenzyme Q deficiencyMaría Alcázar-Fabra, Elsebet Østergaard, Daniel J M Fernández-Ayala, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)Said C Farschtschi, Candy Kumps, Tamara Hussong Milagre, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Psychiatry Research. Neuroimaging|January 22, 2026
Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disordersTommaso Toffanin, Giulia Ida Perini, Halima Follador, et al.
Molecular Cell|January 31, 2024
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cellsLudovic Pelosi, Laura Morbiato, Arthur Burgardt, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2023
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cellsLudovic Pelosi, Laura Morbiato, Arthur Burgardt, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
The Journal of Clinical Investigation|June 13, 2024
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammalsAnais Franco-Romero, Valeria Morbidoni, Giulia Milan, et al.
Molecular Genetics and Metabolism Reports|January 6, 2025
Identification of a new <i>COQ4</i> spliceogenic variant causing severe primary coenzyme Q deficiencyMaría Alcázar-Fabra, Elsebet Østergaard, Daniel J M Fernández-Ayala, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)Said C Farschtschi, Candy Kumps, Tamara Hussong Milagre, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Psychiatry Research. Neuroimaging|January 22, 2026
Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disordersTommaso Toffanin, Giulia Ida Perini, Halima Follador, et al.
Molecular Cell|January 31, 2024
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cellsLudovic Pelosi, Laura Morbiato, Arthur Burgardt, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2023
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cellsLudovic Pelosi, Laura Morbiato, Arthur Burgardt, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Pageof 9