Fast detection of deletion breakpoints using quantitative PCR

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Fast detection of deletion breakpoints using quantitative PCR

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bilimsel makale

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scientific article published on 16 June 2016

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Fast detection of deletion breakpoints using quantitative PCR

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Fast detection of deletion breakpoints using quantitative PCR.

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Fast detection of deletion breakpoints using quantitative PCR

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Fast detection of deletion breakpoints using quantitative PCR.

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Fast detection of deletion breakpoints using quantitative PCR

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Fast detection of deletion breakpoints using quantitative PCR.

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P1476

Fast detection of deletion breakpoints using quantitative PCR

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P2093

Gulshara Abildinova

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Helena Tuchinsky

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Zhanara Abdrakhmanova

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P2860

Human genetics and genomics a decade after the release of the draft sequence of the human genome

Mutations in NOTCH1 cause Adams-Oliver syndrome

Function and genetics of dystrophin and dystrophin-related proteins in muscle.

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

Bone health in children with neuromuscular disorders.

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

P304

365-369

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scholarly article

P356

10.1590/1678-4685-GMB-2015-0159

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P433

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P478

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Albert Pinhasov

Leon Raskin

Elimelech Nesher

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2016-06-16T00:00:00Z

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P698

27560363

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5004823

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