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Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Davide Mei

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Neurology|February 10, 2019

Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.

Brain : a Journal of Neurology|October 24, 2018

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.

American Journal of Human Genetics|December 25, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.

Epilepsia|December 23, 2023

Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.

American Journal of Human Genetics|July 19, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.

Nature Communications|October 31, 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.

Nature Genetics|September 9, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.

Genome Medicine|November 10, 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.

Science Advances|March 10, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.

Medrxiv : the Preprint Server for Health Sciences|March 3, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.

Pageof 11

Search research articles

Showing results (101-110 of 110) with videos related to

Sort By:

Pageof 11

You have reached the last page of results.This site can display upto 110 results.

Neurology|February 10, 2019

Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.

Brain : a Journal of Neurology|October 24, 2018

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.

American Journal of Human Genetics|December 25, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.

Epilepsia|December 23, 2023

Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.

American Journal of Human Genetics|July 19, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.

Nature Communications|October 31, 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.

Nature Genetics|September 9, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.

Genome Medicine|November 10, 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.

Science Advances|March 10, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.

Medrxiv : the Preprint Server for Health Sciences|March 3, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.

Pageof 11