Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
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cfDNA screening and diagnosis of monogenic disorders - where are we heading?Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study.
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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 25 January 2017
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
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label
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
@en
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
@nl
prefLabel
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
@en
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
@nl
P2093
P2860
P356
P1476
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
@en
P2093
Benjamin Bowns
Denise Williams
Fiona MacDonald
Julie Hewitt
Mike Griffiths
Samantha Court
Samuel Clokie
Siobhan Cleary
Stephanie Allen
Trevor Cole
P2860
P2888
P304
P356
10.1038/EJHG.2016.195
P577
2017-01-25T00:00:00Z