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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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2
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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3
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
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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

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4
P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?
P24 A genome-wide association study of non-alcoholic fatty liver disease in India: is there divergence in the genetic risk profile?
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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

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5
GP58 Case report of hunter syndrome in mongolians
GP58 Case report of hunter syndrome in mongolians
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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

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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
106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations
106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations
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106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations

Šikić, 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, Ivo

Archives 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 Health

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8
446 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis
446 Single nucleotide polymorphisms of genes HMGB1 and AGER and its association with clinical features of IgA vasculitis
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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

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9
805 Congenital disorder of glycosylation with fibular hemimelia
805 Congenital disorder of glycosylation with fibular hemimelia
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805 Congenital disorder of glycosylation with fibular hemimelia

Yıldız, Süleyman ; Yılmaz, Sibel Tanrıverdi ; Ertugrul, Sabahattin ; Değer, İbrahim ; Yolbaş, İlyas

Archives 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 Health

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10
705 Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic literature review
705 Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic literature review
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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

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