scholarly article | Q13442814 |
P50 | author | Michael Parks | Q38361090 |
P2093 | author name string | Fiona MacDonald | |
Trevor Cole | |||
Denise Williams | |||
Julie Hewitt | |||
Mike Griffiths | |||
Samantha Court | |||
Siobhan Cleary | |||
Stephanie Allen | |||
Samuel Clokie | |||
Benjamin Bowns | |||
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P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 4 | |
P921 | main subject | spinal muscular atrophy | Q580290 |
muscular atrophy | Q2844600 | ||
P304 | page(s) | 416-422 | |
P577 | publication date | 2017-01-25 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage | |
P478 | volume | 25 |
Q90297790 | Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy |
Q98475414 | Evaluation of Beta -Thalassemia in the Fetus through cffDNA with Multiple Polymorphisms as a Haplotype in the Beta-Globin Gene |
Q90467894 | Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia |
Q47423413 | Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population |
Q50051267 | Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study |
Q89556540 | Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA |
Q90366836 | Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband |
Q47900162 | Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping |
Q89501954 | The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study |
Q47191639 | cfDNA screening and diagnosis of monogenic disorders - where are we heading? |
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