skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Refinado por: Nome da Publicação: Abstracts remover assunto: Pediatrics remover Genetic Screening remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
2
P290 Possibilities of genetic research in the prevention of the development of excess mass of the body and obesity in children
P290 Possibilities of genetic research in the prevention of the development of excess mass of the body and obesity in children
Material Type:
Artigo 		Adicionar ao Meu Espaço

P290 Possibilities of genetic research in the prevention of the development of excess mass of the body and obesity in children

Bulatova, Elena ; Lagno, Olga ; Shabalov, Alexander ; Polunovskiy, Valeriy ; Seledtsova, Ludmila

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A273 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
3
P627 Mitochondrial disease mimics
P627 Mitochondrial disease mimics
Material Type:
Artigo 		Adicionar ao Meu Espaço

P627 Mitochondrial disease mimics

Doyle, Samantha ; Abidin, Zaza ; Senanayake, Suranga ; James, Stephanie ; Yap, Mei ; Hart, Caroline ; Crushell, Ellen ; Smyth, Shane ; Green, Andrew ; Treacy, Eileen ; Lynch, Tim ; Pastores, Gregory ; Laffan, Aoife ; O’Byrne, James

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A401 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
4
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
6
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
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

Citações Citado por
7
122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case report
122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case report
Material Type:
Artigo 		Adicionar ao Meu Espaço

122 Multiple intestinal atresia with combined immunodeficiency due to TTC7A gene mutation – case report

Vukšić, Iva ; Kubat, Katja Dumić ; Ćaleta, Tomislav ; Matić, Toni ; Cigrovski, Nevenka ; Kelečić, Jadranka ; Pasini, Miram ; Luetić, Tomislav ; Vuković, Jurica ; Dessardo, Nada Sindičić ; Grizelj, Ruža

Archives 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 Health

Texto completo disponível

Citações Citado por
8
1232 Parental perspective: ‘google’ diagnosis of genetically william-like syndrome (microdeletion of chromosome 7q11.23
1232 Parental perspective: ‘google’ diagnosis of genetically william-like syndrome (microdeletion of chromosome 7q11.23
Material Type:
Artigo 		Adicionar ao Meu Espaço

1232 Parental perspective: ‘google’ diagnosis of genetically william-like syndrome (microdeletion of chromosome 7q11.23

Muslim, Ihsanuddin Mohamed

Archives 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 Health

Texto completo disponível

Citações Citado por
9
595 A rare cause of long QT- Timothy syndrome
595 A rare cause of long QT- Timothy syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
10
GP235 COL4A1 mutation inherited from maternal mosaicism in an infant presenting with microcephaly, haemolytic anaemia and cataracts
GP235 COL4A1 mutation inherited from maternal mosaicism in an infant presenting with microcephaly, haemolytic anaemia and cataracts
Material Type:
Artigo 		Adicionar ao Meu Espaço

GP235 COL4A1 mutation inherited from maternal mosaicism in an infant presenting with microcephaly, haemolytic anaemia and cataracts

O’Neill, Roisin ; O’Mahony, Olivia ; McSweeney, Niamh

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A126 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.