Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

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Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions."Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.

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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Potentially Treatable Disorder ...... Boy with Respiratory Distress

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Chiara Fallerini

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Laura Bianciardi

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Maria Antonietta Mencarelli

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Simone Furini

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P2860

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

Identification of pathogenic mutations in the human rapsyn gene

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex

Exome sequencing as a tool for Mendelian disease gene discovery

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

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scholarly article

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10.3390/IJMS17030306

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English

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2016-02-27T00:00:00Z

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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

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P2860

P2860

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

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type

label

prefLabel

P1433

P1476

P2093

P2860

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P356

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P577

P698

P932

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P1433

P1476

P2093

P2860

P304

P31

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P407

P433

P478

P50

P577

P698

P932