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100 Williams-Beuren syndrome: a case seriesLaslo, Dorian ; Tomac, Višnja ; Pušeljić, SilvijaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A42-A42 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto 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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1073 Rare CASK gene mutation with cerebellopontine hypoplasia and tetralogy of fallot – end of life care considerations in PICUKatre, Mahesh ; Saikia, Bedangshu ; Kaninde, AbhidhammaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A215-A216 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patientsRamadža, Danijela Petković ; Žigman, Tamara ; Grizelj, Ruža ; Ninković, Dorotea ; Omerza, Lana ; Aničić, Mirna Natalija ; Ćorić, Marijana ; Mayr, Johannes A ; Feichtinger, René ; Wortmann, Saskia ; Prokisch, Holger ; Fumić, Ksenija ; Vuković, Jurica ; Barić, IvoArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A45-A46 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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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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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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1373 Rapid exome sequencing for acutely unwell children: experiences from Yorkshire regional genetics serviceLerou, Dimitra-Ilektra ; Meng Yin Chen, Jasmine ; Redman, Melody ; Lam, Zena ; Hartill, Verity ; Campbell, JenniferArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A343-A344 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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1388 Evaluation of availability of specialist psychological services for paediatric cystic fibrosis patients in district general hospitals and tertiary centresWajid, Lubna ; Prasad, ArchanaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A349-A350 [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 |