Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders (Q37185993)
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scientific article published on 06 February 2013
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders |
scientific article published on 06 February 2013 |
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders (English)
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Stacey Gabriel
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Eugen Boltshauser
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Joseph G Gleeson
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Graziella Uziel
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Sophie Thomas
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Jennifer Silhavy
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Sabrina Signorini
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Miriam Iannicelli
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Nadia Elkhartoufi
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International JSRD Study Group
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Bruria Ben-Zeev
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Francesco Brancati
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Eric Scott
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Malika Chaouch
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Maria Roberta Cilio
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Mirjam M de Jong
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Hulya Kayserili
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Gonul Ogur
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Colin Johnson
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6 February 2013
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1074-1078
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Identifiers
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