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1165 The wales infants’ and children’s genome service’ (WINGS): diagnostic rapid whole genome sequencing for unwell children with a suspected rare genetic diagnosisMurch, Oliver ; Jezkova, Jana ; Halstead, Joseph ; Burke, Katherine ; Oruganti, Siva ; Calvert, Jennifer ; Evans, Jennifer ; Williams, Hywel ; Sansbury, Francis ; Corrin, Sian ; Sloper, EmilyArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A256-A256 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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P290 Possibilities of genetic research in the prevention of the development of excess mass of the body and obesity in childrenBulatova, Elena ; Lagno, Olga ; Shabalov, Alexander ; Polunovskiy, Valeriy ; Seledtsova, LudmilaArchives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A273 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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P627 Mitochondrial disease mimicsDoyle, Samantha ; Abidin, Zaza ; Senanayake, Suranga ; James, Stephanie ; Yap, Mei ; Hart, Caroline ; Crushell, Ellen ; Smyth, Shane ; Green, Andrew ; Treacy, Eileen ; Lynch, Tim ; Pastores, Gregory ; Laffan, Aoife ; O’Byrne, JamesArchives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A401 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndromeBulić, Dora ; Škorić, Tea ; Žigman, Tamara ; Krnjak, Goran ; Tešović, Goran ; Barišić, Nina ; Barić, Ivo ; Ramadža, Danijela PetkovićArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A43-A43 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settingsMcDermott, Helen ; Baple, Emma ; Ellard, Sian ; Naik, SwatiArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A368-A369 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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359 A novel COL4A4 mutation in the proband initially diagnosed as IgAN with autosomal recessive Alport syndromeAltun, Ilayda ; Saygılı, Seha ; Canpolat, Nur ; Çalışkan, Salim ; Sever, LaleArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A151-A151 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case reportVukšić, Iva ; Kubat, Katja Dumić ; Ćaleta, Tomislav ; Matić, Toni ; Cigrovski, Nevenka ; Kelečić, Jadranka ; Pasini, Miram ; Luetić, Tomislav ; Vuković, Jurica ; Dessardo, Nada Sindičić ; Grizelj, RužaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A51-A52 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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1232 Parental perspective: ‘google’ diagnosis of genetically william-like syndrome (microdeletion of chromosome 7q11.23Muslim, Ihsanuddin MohamedArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A285-A286 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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595 A rare cause of long QT- Timothy syndromeMallappa, Anupama ; Rogahan, DetlevArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A52-A53 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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GP235 COL4A1 mutation inherited from maternal mosaicism in an infant presenting with microcephaly, haemolytic anaemia and cataractsO’Neill, Roisin ; O’Mahony, Olivia ; McSweeney, NiamhArchives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A126 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |