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Analiza MLPA u dijagnostici DFNB1 gluhoće

Paediatria Croatica. Supplement, 2010
Analiza MLPA u dijagnostici DFNB1 ...
Barišić, Ingeborg   +2 more
openaire   +1 more source

MLPA method for PMP22 gene analysis:

2005
DNA copy number alterations are responsible for several categories of human diseases and syndromes. These changes can be detected by cytogenetic studies when there is involvement of several kilobases or megabases of DNA. Examination of sub-microscopic changes is possible by using short probes flanked by the same primer pairs.
Kokalj-Vokač, Nadja   +2 more
openaire   +1 more source

[MLPA technique--principles and use in practice].

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi, 2008
MLPA (Multiplex Ligation-dependent Probe Amplification) is a recently introduced method, based on PCR principle, useful for the detection of different genetic abnormalities (aneuploidies, gene deletions/duplications, subtelomeric rearrangements, methylation status etc). The technique is simple, reliable and cheap.
Cristina, Rusu   +7 more
openaire   +1 more source

MLPA of uveal melanomas

Acta Ophthalmologica Scandinavica, 2007
S COUPLAND   +4 more
openaire   +1 more source

MLPA of extraocular tumors

Acta Ophthalmologica Scandinavica, 2007
S COUPLAND, B DAMATO
openaire   +1 more source

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA

Journal of Neurological Sciences, 2018
Maria Tsipi   +9 more
semanticscholar   +1 more source

P2.062 MLPA analysis in EOP patients

Parkinsonism & Related Disorders, 2009
C. Barzaghi   +6 more
openaire   +1 more source

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

Indian Journal of Pediatrics, 2018
Bharti Singh   +6 more
semanticscholar   +1 more source

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