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Eva Trevisson

Showing results (51-60 of 86) with videos related to

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Human Molecular Genetics|August 6, 2016
The COQ2 genotype predicts the severity of coenzyme Q10 deficiencyMaria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, et al.
European Journal of Human Genetics : EJHG|October 23, 2014
Expanding the mutational spectrum of LZTR1 in schwannomatosisIrene Paganini, Vivian Y Chang, Gabriele L Capone, et al.
Human Mutation|December 2, 2017
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B functionLuis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
Journal of Cachexia, Sarcopenia and Muscle|May 20, 2022
Ambra1 deficiency impairs mitophagy in skeletal muscleLisa Gambarotto, Samuele Metti, Martina Chrisam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2019
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort studyD Gareth R Evans, Roope A Kallionpää, Maurizio Clementi, et al.
Heliyon|October 24, 2024
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosisValentina Melfi, Tasnim Mohamed, Alessandra Colciago, et al.
Human Molecular Genetics|March 22, 2007
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisJosé M López-Martín, Leonardo Salviati, Eva Trevisson, et al.
Pathologica|November 17, 2025
A novel germline <i>NF1</i> splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab responseEnrico Berrino, Sara Erika Bellomo, Luca Mastorino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2019
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort studyD Gareth R Evans, Roope A Kallionpää, Maurizio Clementi, et al.
Pageof 9

Showing results (51-60 of 86) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|August 6, 2016
The COQ2 genotype predicts the severity of coenzyme Q10 deficiencyMaria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, et al.
European Journal of Human Genetics : EJHG|October 23, 2014
Expanding the mutational spectrum of LZTR1 in schwannomatosisIrene Paganini, Vivian Y Chang, Gabriele L Capone, et al.
Human Mutation|December 2, 2017
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B functionLuis Vazquez Fonseca, Mara Doimo, Cristina Calderan, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
Journal of Cachexia, Sarcopenia and Muscle|May 20, 2022
Ambra1 deficiency impairs mitophagy in skeletal muscleLisa Gambarotto, Samuele Metti, Martina Chrisam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2019
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort studyD Gareth R Evans, Roope A Kallionpää, Maurizio Clementi, et al.
Heliyon|October 24, 2024
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosisValentina Melfi, Tasnim Mohamed, Alessandra Colciago, et al.
Human Molecular Genetics|March 22, 2007
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisJosé M López-Martín, Leonardo Salviati, Eva Trevisson, et al.
Pathologica|November 17, 2025
A novel germline <i>NF1</i> splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab responseEnrico Berrino, Sara Erika Bellomo, Luca Mastorino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2019
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort studyD Gareth R Evans, Roope A Kallionpää, Maurizio Clementi, et al.
Pageof 9