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Research article

First published 2014-10

ENAM Mutations with Incomplete Penetrance

F. Seymen, K.-E. Lee, M. Koruyucu [...]

Journal of Dental Research

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Research article

First published 2015-9

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome

L. M. Zhang, Y. An, G. Pan [...]

Journal of Child Neurology

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Research article

First published 2005-07

Penetrance and Clinical Manifestations of Non-Hotspot Germline RET Mutation,C630R,in a Family with Medullary Thyroid Carcinoma

R.J. Dourisboure,, S. Belli, E. Domenichini [...]

Thyroid®

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Research article

First published 2013-12-10

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

Luisa Benussi, Giacomina Rossi, Michela Glionna [...]

Journal of Alzheimer’s Disease

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Research article

First published 2015-6

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

Francesco Garaci, Luisa Marsili, Florence Riant [...]

The Neuroradiology Journal

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Research article

First published 2013-11-25

Secretory Leukocyte Protease Inhibitor Protein Regulates the Penetrance of Frontotemporal Lobar Degeneration in Progranulin Mutation Carriers

Roberta Ghidoni, Rosa Flocco, Anna Paterlini [...]

Journal of Alzheimer’s Disease

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Research article

First published 2020-09

Different Clinical Phenotypes Caused by Three F8 Missense Mutations in Three Chinese Families with Moderate Hemophilia A

Limin Huang, Liyan Li, Qiang Li [...]

DNA and Cell Biology

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Research article

First published 2008-12

A Novel Frameshift Mutation in FRMD7 Causing X-Linked Idiopathic Congenital Nystagmus

Xiang He, Feng Gu, Ze Wang [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2017-4

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

Francesca Cortini, Barbara Marinelli, Silvia Romi [...]

Vascular and Endovascular Surgery

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Brief report

First published 2011-5-10

PSEN1 and PRNP Gene Mutations Co-occurrence Makes Onset Very Early in a Family with FTD Phenotype

Livia Bernardi, Maria Anfossi, Maura Gallo [...]

Journal of Alzheimer’s Disease

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