skip to main content
Refinado por: Nome da Publicação: Abstracts remover assunto: Phenotypes remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
359 A novel COL4A4 mutation in the proband initially diagnosed as IgAN with autosomal recessive Alport syndrome
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

2
423 Genetic predictors of a new form of bronchopulmonary dysplasia
Material Type:
Artigo
Adicionar ao Meu Espaço

423 Genetic predictors of a new form of bronchopulmonary dysplasia

Bondar, VA ; Davydova, IV ; Basargina, MA ; Savostyanov, KV ; Pushkov, AA ; Zhanin, IS ; Nikitin, AG

Archives 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 Health

Texto completo disponível

3
248 A longterm follow-up of two siblings with alagille syndrome
Material Type:
Artigo
Adicionar ao Meu Espaço

248 A longterm follow-up of two siblings with alagille syndrome

Ćuk, Matea Crnković ; Perše, Barbara ; Matijević, Petra ; Žaja, Orjena

Archives 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 Health

Texto completo disponível

4
GP58 Case report of hunter syndrome in mongolians
Material Type:
Artigo
Adicionar ao Meu Espaço

GP58 Case report of hunter syndrome in mongolians

Doljoo, Zolzaya ; Jav, Sarantuya ; Ichinkhorloo, Purevdorj ; Batbaatar, Batchimeg ; Ganjuur, Oyungerel ; Batmunkh, Munkhbat ; Namid, Munkhtuvshin ; Tumurkhuu, Munkhtuya

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A53 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

Texto completo disponível

5
P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?
Material Type:
Artigo
Adicionar ao Meu Espaço

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, G

Gut, 2020-09, Vol.69 (Suppl 1), p.A19-A19 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

Texto completo disponível

6
446 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis
Material Type:
Artigo
Adicionar ao Meu Espaço

446 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis

Held, Martina ; Varga, Mateja Batnozic ; Sestan, Mario ; Sapina, Matej ; Kifer, Nastasia ; Grguric, Danica ; Gornik, Kristina Crkvenac ; Frkovic, Marijan ; Arvaj, Nena ; Wagner, Jasenka ; Jelusic, Marija

Archives 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 Health

Texto completo disponível

7
455 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis
Material Type:
Artigo
Adicionar ao Meu Espaço

455 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis

Held, Martina ; Varga, Mateja Batnozić ; Sestan, Mario ; Sapina, Matej ; Kifer, Nastasia ; Grguric, Danica ; Gornik, Kristina Crkvenac ; Frkovic, Marijan ; Arvaj, Nena ; Wagner, Jasenka ; Jelusic, Marija

Archives 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 Health

Texto completo disponível

8
192 Alagille syndrome in infant with fallot tetralogy
Material Type:
Artigo
Adicionar ao Meu Espaço

192 Alagille syndrome in infant with fallot tetralogy

Herceg, Stjepan ; Dilber, Daniel ; Šarić, Dalibor ; Bartoniček, Dorotea ; Mihalec, Marina ; Frković, Sanda Huljev ; Belina, Dražen ; Đurić, Željko ; Planinc, Mislav

Archives 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 Health

Texto completo disponível

9
50 Incidental finding of congenital diaphragmatic hernia and trisomy 21 in an infant presenting with bronchiolitis
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

10
705 Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic literature review
Material Type:
Artigo
Adicionar ao Meu Espaço

705 Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic literature review

Malakasioti, Georgia ; Iancu, Daniela ; Tullus, Kjell

Archives 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 Health

Texto completo disponível

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até

Nome da Publicação 

  1. Archives Of Disease In Childhood  (15)
  2. Gut  (2)
  3. Mais opções open sub menu

Buscando em bases de dados remotas. Favor aguardar.