Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. - Wikidata - wikimedia - TriplyDB

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

http://www.wikidata.org/entity/Q33624239

about

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening Sialidosis type I: ophthalmological findings.Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

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P2860

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

http://www.wikidata.org/entity/Q33624239

description

2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Assessment of a targeted reseq ...... f lysosomal storage disorders.

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Assessment of a targeted reseq ...... f lysosomal storage disorders.

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Assessment of a targeted reseq ...... f lysosomal storage disorders.

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Assessment of a targeted reseq ...... f lysosomal storage disorders.

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Assessment of a targeted reseq ...... f lysosomal storage disorders.

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Ana Fernández-Marmiesse

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Daisy Castiñeiras

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Jose A Cocho

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Judith Armstrong

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Manuel Castro-Gago

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Marcos Morey

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Maria Socorro Pérez-Poyato

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Merce Pineda

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Sofia Gouveia

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P2860

BFAST: an alignment tool for large scale genome resequencing

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

Massively parallel sequencing: the next big thing in genetic medicine

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