Found: 10
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Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
- Published in:
- Human Genetics, 2006, v. 120, n. 5, p. 733, doi. 10.1007/s00439-006-0263-5
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- Publication type:
- Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- 2003
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- Publication type:
- Erratum
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 161, doi. 10.1007/s00439-002-0761-z
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- Publication type:
- Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9
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- Publication type:
- Article
The C42R Mutation in the Kir6.2 (KCNJ11) Gene as a Cause of Transient Neonatal Diabetes, Childhood Diabetes, or Later-Onset, Apparently Type 2 Diabetes Mellitus.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3174, doi. 10.1210/jc.2005-0096
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
- By:
- Publication type:
- Article
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
- Published in:
- 2006
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- Publication type:
- journal article
Elevated serum interferon γ and interleukin-6 in patients with necrotizing lymphadenitis (Kikuchi's disease).
- Published in:
- British Journal of Haematology, 1996, v. 95, n. 4, p. 613, doi. 10.1046/j.1365-2141.1996.d01-1964.x
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- Publication type:
- Article
Evaluation of new commercial immunochromatography kit for norovirus in feces.
- Published in:
- Pediatrics International, 2009, v. 51, n. 1, p. 164, doi. 10.1111/j.1442-200X.2008.02788.x
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- Publication type:
- Article