Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

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Adriano Angioni

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Andrea Diociaiuti

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Elisa Pisaneschi

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May El Hachem

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Pietro Sirleto

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Renata Boldrini

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Silvia Genovese

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P2860

A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers.

Comparison of next-generation sequencing systems

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Nonsyndromic types of ichthyoses - an update

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Integrative genomics viewer

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

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10.1186/S13023-016-0384-4

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Simona Giancristoforo

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2016-01-13T00:00:00Z

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

about

P2860

P2860

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

description

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P1433

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