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Akashdeep Singh

3PUBLICATIONS

17CO-AUTHORS

Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Immunogenetics (incl. genetic immunology)

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Publications (3)

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|Oct 16, 2025

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Akash Singh, John Wyatt, Marie Théaudin

|Sep 01, 2021

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Kimberly Gall, Emanuela Izzo, Eija H Seppälä

|Aug 13, 2021

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed

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Frequent Collaborators

1 joint publications

Marie Théaudin

1 joint publications

Chafic Karam

1 joint publications

David Kasper

1 joint publications

Alessandra Zanetti

1 joint publications

Francesca D'Avanzo

1 joint publications

Moeenaldeen AlSayed

1 joint publications

Ana Carolina Brusius-Facchin

1 joint publications

Yin-Hsiu Chien

1 joint publications

Roberto Giugliani

1 joint publications

Emanuela Izzo

Frequent Collaborators

1 joint publications

Marie Théaudin

1 joint publications

Chafic Karam

1 joint publications

David Kasper

1 joint publications

Alessandra Zanetti

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