Sage Journals: Discover world-class research

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Case report

First published 2006-05

Exonic deletions as a cause of erythropoietic protoporphyria

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2014-4

Exonal Deletion of SLC24A4 Causes Hypomaturation Amelogenesis Imperfecta

F. Seymen, K.-E. Lee, C.G. Tran Le [...]

Journal of Dental Research

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Brief report

First published 2000-03

Exon Deletions and Duplications in BRCA1 Detected by Semiquantitative PCR

M. D. Robinson, C. E. Chu, G. Turner [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2009-06

Deletion of Exons 1a-2 of BRCA1 : A Rather Frequent Pathogenic Abnormality

Ans M.W. van den Ouweland, Winand N.M. Dinjens, Lambert C.J. Dorssers [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2023

Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma

Inès Debbabi, Sophie Vacher, Cindy Neuzillet [...]

Therapeutic Advances in Medical Oncology

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Research article

First published 2020

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

Megan A. Waldrop, Rabah Ben Yaou, Karin K. Lucas [...]

Journal of Neuromuscular Diseases

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Case report

First published 2015-03

Deletion of Exon 1 of the SLC16A2 Gene: A Common Occurrence in Patients with Allan-Herndon-Dudley Syndrome

Benilde García-de Teresa, Ariadna González-del Angel, Miriam Erandi Reyna-Fabián [...]

Thyroid®

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Research article

First published 2021

Characterization of a Knock-In Mouse Model with a Huntingtin Exon 1 Deletion

Elise M. Braatz, Emily A. André, Jeh-Ping Liu [...]

Journal of Huntington's Disease

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Research article

First published 2001-05

Dilated Cardiomyopathy of Becker-Type Muscular Dystrophy with Exon 4 Deletion

Masao Saotome, Yuji Yoshitomi, Shunichi Kojima [...]

Angiology

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Research article

First published 2004-01

A Large Deletion due to a New Mutation (Intron 13/Exon 23) in a Sporadic Case of Severe Hemophilia A

Anna Maria Lombardi, Laura Cabrio, Ezio Zanon [...]

Clinical and Applied Thrombosis/Hemostasis

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