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Select article: Two novel SCN1A mutations identified in families with familial hemiplegic migraine

Free access

Research article

First published 2014-11

Two novel SCN1A mutations identified in families with familial hemiplegic migraine

Claudia M Weller, Nadine Pelzer, Boukje de Vries [...]

Cephalalgia

Select article: A Novel ATP1A2 Mutation in a Family with FHM Type II

Free access

Research article

First published 2006-3

A Novel ATP1A2 Mutation in a Family with FHM Type II

F Pierelli, GS Grieco, F Pauri [...]

Cephalalgia

Select article: A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report

Free access

Research article

First published 2017-11

A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report

Yang Zhang, Ning Chen, Muke Zhou [...]

Cephalalgia

Select article: A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Free access

Research article

First published 2019-10

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Wenjing Tang, Meichen Zhang, Enchao Qiu [...]

Cephalalgia

Select article: A Novel ITM2B Mutation Associated with Familial Chinese Dementia

Retricted access

Brief report

First published 2021-05-18

A Novel ITM2B Mutation Associated with Familial Chinese Dementia

Xin Liu, Ke-Liang Chen, Yi Wang [...]

Journal of Alzheimer’s Disease

Select article: A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family

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Research article

First published 2019-12

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family

Yun Bao, Jingmin Yang, Lu Chen [...]

Genetic Testing and Molecular Biomarkers

Select article: A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family

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Research article

First published 2025-12

A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family

Jianping Zhang, Yijia Zhao, Yueyuan Lan [...]

Genetic Testing and Molecular Biomarkers

Select article: A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation

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Research article

First published 2016-12

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation

Satsuki Nishigaki, Takashi Hamazaki, Keinosuke Fujita [...]

Thyroid®

Select article: A Novel Mutation in EXT2 Gene in a Chinese Family with Hereditary Multiple Exostoses

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Research article

First published 2008-09

A Novel Mutation in EXT2 Gene in a Chinese Family with Hereditary Multiple Exostoses

Shi Guo Liu, De Guo Lu, Zhong Qiang Liu [...]

Genetic Testing and Molecular Biomarkers

Select article: Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy

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Research article

First published 2019-10

Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy

Ye Yuan, Huijuan Xu, Shanshan Zhang [...]

Genetic Testing and Molecular Biomarkers

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