Associated Papers
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
34276053 (PubMed )
Supplement: 41431_2021_933_MOESM1_ESM.docx
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).
Moat SJ et al.
European Journal of Human Genetics : Ejhg, 2013
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Qiao Y et al.
Clinical Genetics, 2013
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