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Research article

First published 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Gabrielle Rudolf, Tiina Suominen, Sini Penttilä [...]

Journal of Neuromuscular Diseases

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Research article

First published 2015-3

Prader-Willi Syndrome With a Long-Contiguous Stretch of Homozygosity Not Covering the Critical Region

Xie Yingjun, Zhou Yi, Wu Jianzhu [...]

Journal of Child Neurology

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Brief report

First published 2009

Possible Alzheimer's Disease in an Apolipoprotein E2 Homozygote

Ignat Ignatov, Christine Belden, Sandra Jacobson [...]

Journal of Alzheimer’s Disease

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Announcement

First published 2017-1

Genetic Homozygosity and Phenotypic Variability in Craniosynostotic Rabbits

James R. Gilbert, James J. Cray, Amy Kreithen [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2012-1-12

Association of Apolipoprotein E ε4 (ApoE ε4) Homozygosity with Psychiatric Behavioral Symptoms

Andreas Michels, Manuel Multhammer, Maria Zintl [...]

Journal of Alzheimer’s Disease

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Research article

First published 1999-3

HLA Class I Homozygosity Accelerates Disease Progression in Human Immunodeficiency Virus Type 1 Infection

Jianming Tang, Caroline Costello, Ireneus P.M. Keet [...]

AIDS Research and Human Retroviruses

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Research article

First published

HFE C282Y Homozygotes Aged 25–29 Years at HEIRS Study Initial Screening

James C. Barton, Ronald T. Acton, Catherine Leiendecker-Foster [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2010-02

Large Deletion Involving Exon 5 of the Arylsulfatase B Gene Caused Apparent Homozygosity in a Mucopolysaccharidosis Type VI Patient

Guglielmo R.D. Villani, Michela Grosso, Gianfranco Pontarelli [...]

Genetic Testing and Molecular Biomarkers

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

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Research article

First published 2014-12

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

Didem Yücel-Yılmaz, Berçin Tarlan, Hayyam Kıratlı [...]

DNA and Cell Biology

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