Sage Journals: Discover world-class research

Open access

Research article

First published 2014

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

Jorge Oliveira, Ana Gonçalves, Márcia E. Oliveira [...]

Journal of Neuromuscular Diseases

Free access

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

Retricted access

Other

First published 2012-2

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Sing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin [...]

Journal of Child Neurology

Retricted access

Research article

First published 2005-09

Large Deletion at the TSC1 Locus in a Family with Tuberous Sclerosis Complex

M. Nellist, O. Sancak, M.A. Goedbloed [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Other

First published 1998-11

A Large-Scale Mitochondrial DNA Deletion Causing Progressive Ataxia

Shigeko Saitoh, Mariko Y. Momoi, Takehiro Ohki [...]

Journal of Child Neurology

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

Retricted access

Research article

First published 2003-07

Large-Scale Evaluation of In Silico Gene Deletions in Saccharomyces cerevisiae

Jochen Förster, Iman Famili, Bernhard Ø. Palsson [...]

OMICS: A Journal of Integrative Biology

Open access

Research article

First published

A Large Deletion Affecting TPM3,Causing Severe Nemaline Myopathy

K. Kiiski, V-L. Lehtokari, A.Y. Manzur [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2006-12

Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments

Marc Spentchian, Isabelle Brun-Heath, Agnès Taillandier [...]

Genetic Testing and Molecular Biomarkers

Retricted access

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

Search results