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100 Williams-Beuren syndrome: a case series
100 Williams-Beuren syndrome: a case series
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100 Williams-Beuren syndrome: a case series

Laslo, Dorian ; Tomac, Višnja ; Pušeljić, Silvija

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A42-A42 [Periódico revisado por pares]

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

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2
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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3
1073 Rare CASK gene mutation with cerebellopontine hypoplasia and tetralogy of fallot – end of life care considerations in PICU
1073 Rare CASK gene mutation with cerebellopontine hypoplasia and tetralogy of fallot – end of life care considerations in PICU
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1073 Rare CASK gene mutation with cerebellopontine hypoplasia and tetralogy of fallot – end of life care considerations in PICU

Katre, Mahesh ; Saikia, Bedangshu ; Kaninde, Abhidhamma

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A215-A216 [Periódico revisado por pares]

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

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4
107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients
107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients
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107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients

Ramadža, 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, Ivo

Archives 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 Health

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5
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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6
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
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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

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7
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
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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

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8
1373 Rapid exome sequencing for acutely unwell children: experiences from Yorkshire regional genetics service
1373 Rapid exome sequencing for acutely unwell children: experiences from Yorkshire regional genetics service
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1373 Rapid exome sequencing for acutely unwell children: experiences from Yorkshire regional genetics service

Lerou, Dimitra-Ilektra ; Meng Yin Chen, Jasmine ; Redman, Melody ; Lam, Zena ; Hartill, Verity ; Campbell, Jennifer

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A343-A344 [Periódico revisado por pares]

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

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9
1388 Evaluation of availability of specialist psychological services for paediatric cystic fibrosis patients in district general hospitals and tertiary centres
1388 Evaluation of availability of specialist psychological services for paediatric cystic fibrosis patients in district general hospitals and tertiary centres
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1388 Evaluation of availability of specialist psychological services for paediatric cystic fibrosis patients in district general hospitals and tertiary centres

Wajid, Lubna ; Prasad, Archana

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A349-A350 [Periódico revisado por pares]

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

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10
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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