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Articles (472)

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1-10 of 472 results for pathogenic variation

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Select article: Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report

Open access

Case report

First published 2024

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report

Di-Yi Luo, Yan Long, Li-Li Liu [...]

Sage Open Medical Case Reports

Select article: Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report

Open access

Case report

First published 2025

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report

Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei [...]

Sage Open Medical Case Reports

Select article: Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo

Retricted access

Case report

First published 2024-9

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo

Hsin-Ho Chang, An-Guor Wang, Dau-Ming Niu [...]

European Journal of Ophthalmology

Select article: A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Retricted access

Research article

First published 2020-03

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Bengisu Kevser Bulduk, Hasan Basri Kiliç, Can Ebru Bekircan-Kurt [...]

Genetic Testing and Molecular Biomarkers

Select article: Japanese pathogenic variant database: DPV

Open access

Research article

First published 2018-12-20

Japanese pathogenic variant database: DPV

Hisato Suzuki, Kenji Kurosawa, Keiichi Fukuda [...]

Translational Science of Rare Diseases

Select article: OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

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Case report

First published 2022-7

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Yousra Falfoul, Khaled EL Matri, Imen Habibi [...]

European Journal of Ophthalmology

Select article: Pathogenic Properties of Encephalomyocarditis Virus Plaque Variants. ∗

Retricted access

Research article

First published 1967-12

Pathogenic Properties of Encephalomyocarditis Virus Plaque Variants. ∗

John E. Craighead

Experimental Biology and Medicine

Select article: Hypercalcemia in pregnancy secondary to pathogenic variants in CYP24A1

Open access

Research article

First published 2025

Hypercalcemia in pregnancy secondary to pathogenic variants in CYP24A1

Jocelyn Yee Ping Wong, Ellen Anne Miles

Obstetric Medicine

Select article: Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy

Open access

Article commentary

First published 2023-3

Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy

Jacy L. Wagnon

Epilepsy Currents

Select article: Novel pathogenic variants of SLC38A8 gene and literature review

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Research article

First published 2024-11

Novel pathogenic variants of SLC38A8 gene and literature review

Xiaofang Ren, Lijuan Huang, Shan Cheng [...]

European Journal of Ophthalmology

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