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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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Material Type: Artigo
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423 Genetic predictors of a new form of bronchopulmonary dysplasiaBondar, VA ; Davydova, IV ; Basargina, MA ; Savostyanov, KV ; Pushkov, AA ; Zhanin, IS ; Nikitin, AGArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A176-A177 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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248 A longterm follow-up of two siblings with alagille syndromeĆuk, Matea Crnković ; Perše, Barbara ; Matijević, Petra ; Žaja, OrjenaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A104-A105 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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GP58 Case report of hunter syndrome in mongoliansDoljoo, Zolzaya ; Jav, Sarantuya ; Ichinkhorloo, Purevdorj ; Batbaatar, Batchimeg ; Ganjuur, Oyungerel ; Batmunkh, Munkhbat ; Namid, Munkhtuvshin ; Tumurkhuu, MunkhtuyaArchives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A53 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?Doshi, Mr Niraj ; Chalmers, J ; Mehta, G ; Leena, K ; Astbury, S ; Grove, J ; McQuillin, A ; Morgan, M ; Shenoy, K ; Aithal, GGut, 2020-09, Vol.69 (Suppl 1), p.A19-A19 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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446 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitisHeld, Martina ; Varga, Mateja Batnozic ; Sestan, Mario ; Sapina, Matej ; Kifer, Nastasia ; Grguric, Danica ; Gornik, Kristina Crkvenac ; Frkovic, Marijan ; Arvaj, Nena ; Wagner, Jasenka ; Jelusic, MarijaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A186-A187 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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455 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitisHeld, Martina ; Varga, Mateja Batnozić ; Sestan, Mario ; Sapina, Matej ; Kifer, Nastasia ; Grguric, Danica ; Gornik, Kristina Crkvenac ; Frkovic, Marijan ; Arvaj, Nena ; Wagner, Jasenka ; Jelusic, MarijaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A191-A191 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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192 Alagille syndrome in infant with fallot tetralogyHerceg, Stjepan ; Dilber, Daniel ; Šarić, Dalibor ; Bartoniček, Dorotea ; Mihalec, Marina ; Frković, Sanda Huljev ; Belina, Dražen ; Đurić, Željko ; Planinc, MislavArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A81-A82 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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50 Incidental finding of congenital diaphragmatic hernia and trisomy 21 in an infant presenting with bronchiolitisKaninde, Abhidhamma ; Naeem, A ; Dungarwalla, T ; Rootsey, Thomas ; Ramaswamy, RArchives 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 HealthTexto completo disponível |
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Material Type: Artigo
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705 Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic literature reviewMalakasioti, Georgia ; Iancu, Daniela ; Tullus, KjellArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A89-A89 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |