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Publications by Maxence V Nachury

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Journal of Medical Genetics

English

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Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

Molecular Biology

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Bardet-Biedl Syndrome

Molecular Syndromology

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Bardet-Biedl Syndrome

Journal of Evolution of Medical and Dental Sciences

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A Case of Bardet Biedl Syndrome

The Internet Journal of Pediatrics and Neonatology

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Bardet-Biedl Syndrome 3 (BBS3)

Science-Business eXchange

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Syndrome De Bardet-Biedl : Cils Et Obésité

Medecine/Sciences

Molecular Biology

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Novel Mechanisms of Bardet-Biedl Syndrome Proteins

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Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

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Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

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