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Mads Bak

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European Journal of Human Genetics : EJHG|March 26, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.

Epilepsia|July 2, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, 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.

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Search research articles

Showing results (81-90 of 84) with videos related to

Sort By:

Pageof 9

You have reached the last page of results.This site can display upto 84 results.

European Journal of Human Genetics : EJHG|March 26, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.

Epilepsia|July 2, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, 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.

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