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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
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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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2
159 Severe presentation of Netherton syndrome: a case report
159 Severe presentation of Netherton syndrome: a case report
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159 Severe presentation of Netherton syndrome: a case report

Gagro, Alenka ; Pustišek, Nives ; Ožanić, Suzana Bulić ; Niseteo, Tena ; Sila, Sara ; Kolaček, Sanja ; Barišić, Ingeborg

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A67-A68 [Periódico revisado por pares]

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

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3
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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4
90 The first clinical case of rare form of focal epilepsy caused by the novel mutation in the NPRL3 gene in Russian federation and kazakhstan
90 The first clinical case of rare form of focal epilepsy caused by the novel mutation in the NPRL3 gene in Russian federation and kazakhstan
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90 The first clinical case of rare form of focal epilepsy caused by the novel mutation in the NPRL3 gene in Russian federation and kazakhstan

Kirill, Savostyanov ; Alisa, Nauryzbayeva ; Oksana, Globa ; Alexander, Pushkov ; Lyudmila, Kuzenkova ; Olga, Kondakova ; Alexander, Pakhomov ; Lyubov, Muraveva ; Andrey, Fisenko ; Jaxybayeva, Altynshash

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A38-A38 [Periódico revisado por pares]

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

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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
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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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6
966 Genetic variations causing neonatal diabetes mellitus
966 Genetic variations causing neonatal diabetes mellitus
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966 Genetic variations causing neonatal diabetes mellitus

Elemam, Hazem Helmy ; Allman, Anneli ; Hawkes, Davida

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A177-A178 [Periódico revisado por pares]

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

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7
423 Genetic predictors of a new form of bronchopulmonary dysplasia
423 Genetic predictors of a new form of bronchopulmonary dysplasia
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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

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8
442 The influence of HMGB1 gene (RS41369348) polymorphism on the susceptibility and clinical features of patients with IgAV
442 The influence of HMGB1 gene (RS41369348) polymorphism on the susceptibility and clinical features of patients with IgAV
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442 The influence of HMGB1 gene (RS41369348) polymorphism on the susceptibility and clinical features of patients with IgAV

Varga, Mateja Batnozic ; Sestan, Mario ; Wagner, Jasenka ; Crkvenac, Kristina ; Kifer, Nastasia ; Frkovic, Marijan ; Stefinovec, Laura ; Grguric, Danica ; Puseljic, Silvija ; Jelusic, Marija

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A185-A185 [Periódico revisado por pares]

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

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9
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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10
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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