LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

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Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey.

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LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

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2015年論文

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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LGMD phenotype due to a new ge ...... by next-generation sequencing

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Corrado I Angelini

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Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.

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e39

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scholarly article

editorial

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10.1212/NXG.0000000000000039

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Corrado Angelini

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2015-12-10T00:00:00Z

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287157447

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27066575

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4811386

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LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

about

P2860

P2860

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932