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Orphanet Journal of Rare Diseases
|
October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
Frontiers in Genetics
|
May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
Manon Chretien, Julien Osouf, Carine Abel, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
European Heart Journal
|
March 6, 2026
Laminopathies: natural history and risk prediction of heart failure
Philippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
Circulation
|
June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, 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 encephalopathies
Elsa 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 encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
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Search research articles
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Showing results (101-110 of 111) with videos related to
Sort By:
Page
of 12
Orphanet Journal of Rare Diseases
|
October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
Frontiers in Genetics
|
May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
Manon Chretien, Julien Osouf, Carine Abel, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
European Heart Journal
|
March 6, 2026
Laminopathies: natural history and risk prediction of heart failure
Philippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
Circulation
|
June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, 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 encephalopathies
Elsa 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 encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Page
of 12