Found: 17
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Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Serial measurements of serum alkaline phosphatase for early prediction of osteopaenia in preterm infants.
- Published in:
- Journal of Paediatrics & Child Health, 2011, v. 47, n. 3, p. 134, doi. 10.1111/j.1440-1754.2010.01901.x
- By:
- Publication type:
- Article
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
- Published in:
- Human Brain Mapping, 2017, v. 38, n. 3, p. 1532, doi. 10.1002/hbm.23470
- By:
- Publication type:
- Article
A noninvasive index to predict liver cirrhosis in biliary atresia.
- Published in:
- Pediatric Radiology, 2021, v. 51, n. 2, p. 257, doi. 10.1007/s00247-020-04823-w
- By:
- Publication type:
- Article
Cerebral diffusion tensor images in children with tuberous sclerosis: a preliminary report.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Mesenteric lipoblastoma: case report.
- Published in:
- Pediatric Radiology, 2003, v. 33, n. 1, p. 37, doi. 10.1007/s00247-002-0820-6
- By:
- Publication type:
- Article
The long-term efficacy and tolerability of oral deferasirox for patients with transfusion-dependent β-thalassemia in Taiwan.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Risk for Tuberculosis in Child Contacts Development and Validation of a Predictive Score.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2014, v. 189, n. 2, p. 203, doi. 10.1164/rccm.201305-0863OC
- By:
- Publication type:
- Article
Correlation of dystonia severity and iron accumulation in Rett syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80723-1
- By:
- Publication type:
- Article
Developmental change of brain volume in Rett syndrome in Taiwan.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, p. 1, doi. 10.1186/s11689-024-09549-6
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- Publication type:
- Article
Integration of immunohistochemistry, RNA sequencing, and multiplex ligation‐dependent probe amplification for molecular classification of pediatric medulloblastoma.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 4, p. 1, doi. 10.1002/pbc.29569
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- Publication type:
- Article
Diabetes mellitus in patients with thalassemia major.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 1, p. 20, doi. 10.1002/pbc.24754
- By:
- Publication type:
- Article
The magnetic resonance imaging and age-adjusted matrix metalloproteinase-7 assist the diagnosis of biliary atresia.
- Published in:
- Journal of Gastroenterology, 2024, v. 59, n. 2, p. 138, doi. 10.1007/s00535-023-02051-1
- By:
- Publication type:
- Article
Evaluation of White Matter Changes in Agyria–Pachygyria Complex Using Diffusion Tensor Imaging.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 4, p. 433, doi. 10.1177/0883073810382452
- By:
- Publication type:
- Article
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
- Published in:
- 2012
- By:
- Publication type:
- journal article
CEREBRAL DIFFUSION TENSOR IMAGES IN INFANTS AND NEONATES WITH INFANTILE ONSET POMPE DISEASE.
- Published in:
- Biomedical Engineering: Applications, Basis & Communications, 2011, v. 23, n. 3, p. 205, doi. 10.4015/S1016237211002591
- By:
- Publication type:
- Article