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Articles (464)

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1-10 of 464 results for rare genetic variants

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Select article: Rare genetic variants in patients with cervical artery dissection

Free access

Research article

First published 2019-12

Rare genetic variants in patients with cervical artery dissection

Christopher Traenka, Manja Kloss, Tim Strom [...]

European Stroke Journal

Select article: Rare genetic variants in PKD1 and SMAD2 are associated with intracranial aneurysms in the general population

Open access

Research article

First published 2025-10

Rare genetic variants in PKD1 and SMAD2 are associated with intracranial aneurysms in the general population

Bibi M Wolters, Mark K Bakker, Kristiina Rannikmäe [...]

International Journal of Stroke

Select article: Revisiting APOE : Insights from rare variants and the expanding landscape of Alzheimer's disease genetics

Retricted access

Article commentary

First published 2025-10

Revisiting APOE : Insights from rare variants and the expanding landscape of Alzheimer's disease genetics

Jungsoo Gim

Journal of Alzheimer’s Disease

Select article: Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis

Open access

Research article

First published 2023-4

Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis

Mary K Horton, Joan E Shim, Amelia Wallace [...]

Multiple Sclerosis Journal

Select article: Weighted Selection Probability to Prioritize Susceptible Rare Variants in Multi-Phenotype Association Studies with Application to a Soybean Genetic Data Set

Retricted access

Research article

First published 2023-10

Weighted Selection Probability to Prioritize Susceptible Rare Variants in Multi-Phenotype Association Studies with Application to a Soybean Genetic Data Set

Xianglong Liang, Hokeun Sun

Journal of Computational Biology

Select article: Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old

Retricted access

Research article

First published 2026

Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old

Gina M. Peloso, Dongyu Wang, Sabrina M. Abbruzzese [...]

Journal of Alzheimer’s Disease

Select article: Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE - ɛ 4 Homozygosity

Open access

Research article

First published 2017-1-12

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE - ɛ 4 Homozygosity

Eva Louwersheimer, Petra E. Cohn-Hokke, Yolande A.L. Pijnenburg [...]

Journal of Alzheimer’s Disease

Select article: Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy

Open access

Research article

First published 2022-10

Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy

Sanghoon Lee, Bo Ram Kim, Young Ok Kim

Science Progress

Select article: Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Open access

Review article

First published 2021

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Kimberly E. Foil

Sage Open Chronic Disease

Select article: Rare Genetic Variation and Psychosis: Treatment Considerations for Psychiatrists

Open access

Research article

First published 2026-4

Rare Genetic Variation and Psychosis: Treatment Considerations for Psychiatrists

Mark Ainsley Colijn

The Canadian Journal of Psychiatry

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