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Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR) (2016)
Journal Article
Turner, A., Sasse, J., & Varadi, A. (2016). Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Medical Genetics, 17, https://doi.org/10.1186/s12881-016-0334-y

© 2016 The Author(s). Objectives: Inherited disorders of haemoglobin are the world's most common genetic diseases, resulting in significant morbidity and mortality. The large number of mutations associated with the haemoglobin beta gene (HBB) makes g... Read More about Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740 (2016)
Journal Article
Váradi, A., Odd, D., Varadi, A., Rajatileka, S., Molnár, E., & Luyt, K. (2016). Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740. Acta Paediatrica, 105(7), e307-e312. https://doi.org/10.1111/apa.13421

© 2016 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd. Aim The aim of this work was to test whether three single nucleotide polymorphisms (SNPs) implicated in glutamate homoeostasis or signalling and cellular survival are associated... Read More about Association between neonatal resuscitation and a single nucleotide polymorphism rs1835740.