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Alban Lermine

Showing results (11-20 of 18) with videos related to

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The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Genome Medicine|April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Genome Medicine|January 6, 2024
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Genome Medicine|April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Genome Medicine|January 6, 2024
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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