Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
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 |
|
2 |
Material Type: Artigo
|
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 |
|
3 |
Material Type: Artigo
|
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 |
|
4 |
Material Type: Artigo
|
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 |
|
5 |
Material Type: Artigo
|
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 |
|
6 |
Material Type: Artigo
|
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 |
|
7 |
Material Type: Artigo
|
106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutationsŠikić, Katarina ; Ramadža, Danijela Petković ; Žigman, Tamara ; Barišić, Nina ; Lehman, Ivan ; Mayr, Johannes A ; Prokisch, Holger ; Wortmann, Saskia B ; Sperl, Wolfgang ; Mesarić, Nikola ; Rahelić, Valentina ; Fumić, Ksenija ; Ozretić, David ; Tomasović, Maja ; Barić, IvoArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A45-A45 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
|
8 |
Material Type: Artigo
|
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 |
|
9 |
Material Type: Artigo
|
805 Congenital disorder of glycosylation with fibular hemimeliaYıldız, Süleyman ; Yılmaz, Sibel Tanrıverdi ; Ertugrul, Sabahattin ; Değer, İbrahim ; Yolbaş, İlyasArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A120-A121 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
|
10 |
Material Type: Artigo
|
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 |