Found: 11
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Mesenchymal Hamartoma in Children: A Diagnostic Challenge.
- Published in:
- Case Reports in Pediatrics, 2019, p. 1, doi. 10.1155/2019/4132842
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- Publication type:
- Article
Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation.
- Published in:
- Case Reports in Pediatrics, 2019, p. 1, doi. 10.1155/2019/7983824
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- Publication type:
- Article
Novel Mutation in a Patient with Cholesterol Ester Storage Disease.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/347342
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- Publication type:
- Article
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome.
- Published in:
- Liver International, 2016, v. 36, n. 5, p. 755, doi. 10.1111/liv.12920
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- Publication type:
- Article
Oral vancomycin is associated with improved inflammatory bowel disease clinical outcomes in primary sclerosing cholangitis‐associated inflammatory bowel disease (PSC‐IBD): A matched analysis from the Paediatric PSC Consortium.
- Published in:
- Alimentary Pharmacology & Therapeutics, 2024, v. 59, n. 10, p. 1236, doi. 10.1111/apt.17936
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- Publication type:
- Article
The SPLIT Research Agenda 2013.
- Published in:
- Pediatric Transplantation, 2013, v. 17, n. 5, p. 412, doi. 10.1111/petr.12090
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- Publication type:
- Article
The PNPLA3 rs738409 Variant but not MBOAT7 rs641738 is a Risk Factor for Nonalcoholic Fatty Liver Disease in Obese U.S. Children of Hispanic Ethnicity.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2021, v. 24, n. 5, p. 455, doi. 10.5223/pghn.2021.24.5.455
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- Publication type:
- Article
Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia.
- Published in:
- Liver International, 2010, v. 30, n. 10, p. 1541, doi. 10.1111/j.1478-3231.2010.02312.x
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- Publication type:
- Article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
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- Publication type:
- Article
Turner syndrome may be associated with hepatic adenoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2578, doi. 10.1002/ajmg.a.63341
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- Publication type:
- Article
Idiopathic Intracranial Hypertension in Two Patients With Alagille Syndrome.
- Published in:
- 2010
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- Publication type:
- Case Study