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359 A novel COL4A4 mutation in the proband initially diagnosed as IgAN with autosomal recessive Alport syndrome
359 A novel COL4A4 mutation in the proband initially diagnosed as IgAN with autosomal recessive Alport syndrome
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359 A novel COL4A4 mutation in the proband initially diagnosed as IgAN with autosomal recessive Alport syndrome

Altun, Ilayda ; Saygılı, Seha ; Canpolat, Nur ; Çalışkan, Salim ; Sever, Lale

Archives 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 Health

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2
1165 The wales infants’ and children’s genome service’ (WINGS): diagnostic rapid whole genome sequencing for unwell children with a suspected rare genetic diagnosis
1165 The wales infants’ and children’s genome service’ (WINGS): diagnostic rapid whole genome sequencing for unwell children with a suspected rare genetic diagnosis
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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 diagnosis

Murch, Oliver ; Jezkova, Jana ; Halstead, Joseph ; Burke, Katherine ; Oruganti, Siva ; Calvert, Jennifer ; Evans, Jennifer ; Williams, Hywel ; Sansbury, Francis ; Corrin, Sian ; Sloper, Emily

Archives 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 Health

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3
101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndrome
101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndrome
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101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndrome

Bulić, Dora ; Škorić, Tea ; Žigman, Tamara ; Krnjak, Goran ; Tešović, Goran ; Barišić, Nina ; Barić, Ivo ; Ramadža, Danijela Petković

Archives 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 Health

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4
595 A rare cause of long QT- Timothy syndrome
595 A rare cause of long QT- Timothy syndrome
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595 A rare cause of long QT- Timothy syndrome

Mallappa, Anupama ; Rogahan, Detlev

Archives 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 Health

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5
1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settings
1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settings
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1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settings

McDermott, Helen ; Baple, Emma ; Ellard, Sian ; Naik, Swati

Archives 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 Health

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6
213 Revisiting diagnoses of type 1 diabetes mellitus on all patients attending the paediatric diabetes service, university hospital galway, ireland; are we missing cases of mody?
213 Revisiting diagnoses of type 1 diabetes mellitus on all patients attending the paediatric diabetes service, university hospital galway, ireland; are we missing cases of mody?
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213 Revisiting diagnoses of type 1 diabetes mellitus on all patients attending the paediatric diabetes service, university hospital galway, ireland; are we missing cases of mody?

Flynn, Aoife ; Corcoran, Aoife ; McGrath, Robert ; McGrath, Niamh

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A90-A90 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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7
249 Unusual incidence of crigler-najjar syndrome type 1 in Croatia
249 Unusual incidence of crigler-najjar syndrome type 1 in Croatia
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249 Unusual incidence of crigler-najjar syndrome type 1 in Croatia

Todorić, Ivana ; Aničić, Mirna Natalija ; Omerza, Lana ; Senečić-Čala, Irena ; Tješić-Drinković, Duška ; Vuković, Jurica

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A105-A105 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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8
51 ROHHAD syndrome: clinical case and literature review
51 ROHHAD syndrome: clinical case and literature review
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51 ROHHAD syndrome: clinical case and literature review

Balykova, LA ; Ivyanskaya, NV ; Samoshkina, ES ; Ivyansky, SA ; Kudashova, AF ; Bogdashova, DS

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A21-A22 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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9
392 Hereditary Neuropathy with Liability to Pressure Palsy
392 Hereditary Neuropathy with Liability to Pressure Palsy
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392 Hereditary Neuropathy with Liability to Pressure Palsy

Šeparović, Iva ; Kukuruzović, M ; Malenica, M

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A164-A164 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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10
50 Incidental finding of congenital diaphragmatic hernia and trisomy 21 in an infant presenting with bronchiolitis
50 Incidental finding of congenital diaphragmatic hernia and trisomy 21 in an infant presenting with bronchiolitis
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50 Incidental finding of congenital diaphragmatic hernia and trisomy 21 in an infant presenting with bronchiolitis

Kaninde, Abhidhamma ; Naeem, A ; Dungarwalla, T ; Rootsey, Thomas ; Ramaswamy, R

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A21-A21 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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