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Research article

First published 2016

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Isabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave [...]

Journal of Neuromuscular Diseases

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Research article

First published 2021-07

Randomness in Cancer Breakpoint Prediction

Kseniia Cheloshkina, Islam Bzhikhatlov, Maria Poptsova

Journal of Computational Biology

Open access

Case report

First published 2016-4

Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1

Hojka Gregoric Kumperscak, Danijela Krgovic, Nadja Kokalj Vokac

Journal of International Medical Research

Free access

Brief report

First published 2005-3

A Highly Complex Chromosomal Rearrangement between Five Chromosomes in a Healthy Female Diagnosed in Preparation for Intracytoplasmatic Sperm Injection

Alma Kuechler, Monika Ziegler, Cornelia Blank [...]

Journal of Histochemistry & Cytochemistry

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Research article

First published 2024-11

Café-au-lait Spots and Cleft Palate: Not a Chance Association

Mamiko Yamada, Katsumi Tanito, Hisato Suzuki [...]

The Cleft Palate Craniofacial Journal

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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

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Research article

First published 2009-08

GPR143 Mutational Analysis in Two Italian Families with X-Linked Ocular Albinism

Lucia Micale, Bartolomeo Augello, Carmela Fusco [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2021-02

Complex Variant Discovery Using Discordant Cluster Normalization

Matthew Hayes, Derrick Mullins, Angela Nguyen

Journal of Computational Biology

Open access

Case report

First published 2021-2

Characterisation of two unusual cases of haemoglobin Bart’s hydrops foetalis caused by – SEA and large novel α-globin gene cluster deletions

Yunan Wang, Ying Xiong, Chang Liu [...]

Journal of International Medical Research

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Research article

First published 2017-02

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese [...]

Genetic Testing and Molecular Biomarkers

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