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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
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Dysmorphic sibs trisomic for the region 6q22.1→6q23.3
*Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore †National University Medical Institutes, Faculty of ...
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The birth prevalence rates for the skeletal dysplasias.
This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative ...
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An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
3 Department of Paediatric Dentistry, Eastman Dental Institute for Oral Health Care Sciences, University College London, 256 Gray’s Inn Road, London WC1X 8LD, UK 4 Institute of Child Health, ...
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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
1 Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA 2 Molecular Graphics and ...