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Open access

Case report

First published 2021

A familial case of CAMK2B mutation with variable expressivity

Paige Heiman, Sarah Drewes, Lina Ghaloul-Gonzalez

Sage Open Medical Case Reports

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Research article

First published 2013-9-9

Phenotypic Variability of Familial and Sporadic Progranulin p.Gln257Profs*27 Mutation

Carolina Pires, Miguel Coelho, Anabela Valadas [...]

Journal of Alzheimer’s Disease

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Research article

First published 1999-08

Variable Phenotype Associated with Ser505Asn-Activating Thyrotropin-Receptor Germline Mutation

D. Führer, M. Mix, P. Wonerow [...]

Thyroid®

Open access

Research article

First published 2023-1

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age,sex and vascular risk factors

Charlotte Dupé, Stéphanie Guey, Lucie Biard [...]

Journal of Cerebral Blood Flow & Metabolism

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Research article

First published 1997-3

Genetic algorithms with variable mutation rates: Application to fuzzy logic controller design

D T Pham, D Karaboga

Proceedings of the Institution of Mechanical Engineers,Part I: Journal of Systems and Control Engineering

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Announcement

First published 2007-11

Phenotypic Intrafamilial Variability Associated with S212G Mutation in the RDS/Peripherin Gene

I. Passerini, A. Sodi, B. Giambene [...]

European Journal of Ophthalmology

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Other

First published 2009-05

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

Aviva Fattal-Valevski, Miriam S. DiMaio, Fuki M. Hisama [...]

Journal of Child Neurology

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Research article

First published 2007-12

Variable Phenotypic Expression of Identical MYH Germline Mutations in Siblings with Attenuated Familial Adenomatous Polyposis

Mustafa Raoof, Robert J. Canter, Philip B. Paty

The American Surgeon™

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Research article

First published 2013-11

Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation

Said Ali Al-Yahyaee, Mohammed Al-Kindi, Peter De Jonghe [...]

Journal of Child Neurology

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Research article

First published 2014-9-16

A Mutation in the 5′-UTR of GRN Gene Associated with Frontotemporal Lobar Degeneration: Phenotypic Variability and Possible Pathogenetic Mechanisms

Gianfranco Puoti, Maria Cristina Lerza, Maria Giulia Ferretti [...]

Journal of Alzheimer’s Disease

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