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Research article

First published 2020-10-27

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire

Cinzia Coppola, Dario Saracino, Mariano Oliva [...]

Journal of Alzheimer’s Disease

Open access

Review article

First published 2017-7

Treatment of NRAS -mutated advanced or metastatic melanoma: rationale,current trials and evidence to date

Amélie Boespflug, Julie Caramel, Stephane Dalle [...]

Therapeutic Advances in Medical Oncology

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Research article

First published 2008-06

COL4A3 Founder Mutations in Greek-Cypriot Families with Thin Basement Membrane Nephropathy and Focal Segmental Glomerulosclerosis Dating from Around 18th Century

Konstantinos Voskarides, Charalampos Patsias, Alkis Pierides [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-12-3

Estimating the Age of the Most Common Italian GRN Mutation: Walking Back to Canossa Times

Luisa Benussi, Rosa Rademakers, Nicola J. Rutherford [...]

Journal of Alzheimer’s Disease

Free access

Other

First published 2005-12

Mutations in TLR4 signaling that lead to increased susceptibility to infection in humans: an overview

Stefanie N. Vogel, Agnes A. Awomoyi, Prasad Rallabhandi [...]

Innate Immunity

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Research article

First published 2017-01

Novel Mutations,Including a Large Deletion in the ARSB Gene,Causing Mucopolysaccharidosis Type VI

Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong [...]

Genetic Testing and Molecular Biomarkers

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Brief report

First published 2014-7-16

A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia

Silvia Testi, Silvio Peluso, Gian Maria Fabrizi [...]

Journal of Alzheimer’s Disease

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Research article

First published 2018-08

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8

Hiroyuki Shinohara, Masaki Takagi, Kimiko Ito [...]

Thyroid®

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Other

First published 2004-07

Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

Jong Hee Chae, Hee Hwang, Yong Seung Hwang [...]

Journal of Child Neurology

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Research article

First published 1997-1

Mutation Testing of Early-Onset Breast Cancer Genes BRCA1 and BRCA2

Susan L. Neuhausen, Elaine A. Ostrander

Genetic Testing and Molecular Biomarkers

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