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Mathieu Quinodoz

Showing results (71-80 of 83) with videos related to

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American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Nature|February 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorLila Allou, Sara Balzano, Andreas Magg, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Communications|November 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairmentAndrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, et al.
Nature Medicine|January 8, 2025
High-efficiency base editing in the retina in primates and human tissuesAlissa Muller, Jack Sullivan, Wibke Schwarzer, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Nature|February 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorLila Allou, Sara Balzano, Andreas Magg, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Communications|November 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairmentAndrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, et al.
Nature Medicine|January 8, 2025
High-efficiency base editing in the retina in primates and human tissuesAlissa Muller, Jack Sullivan, Wibke Schwarzer, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 9