Found: 8
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Arginine Deficiency-Induced Hyperammonemia in a Home Total Parenteral Nutrition-Dependent Patient: A Case Report.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2001, v. 25, n. 5, p. 286, doi. 10.1177/0148607101025005286
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- Publication type:
- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Publication type:
- Article
Duplication of the STS region in males is a benign copy-number variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1972, doi. 10.1002/ajmg.a.33985
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- Publication type:
- Article
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 819, doi. 10.1002/ajmg.a.33916
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- Publication type:
- Article
‘The cost and yield of evaluations for developmental delay/mental retardation’.
- Published in:
- 2008
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- Publication type:
- Letter
Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311
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- Publication type:
- Article
An Infant With Myoclonic Jerks, Global Developmental Delay, and Failure to Thrive.
- Published in:
- Clinical Pediatrics, 2011, v. 50, n. 6, p. 570, doi. 10.1177/0009922810366736
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- Publication type:
- Article
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1717
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- Publication type:
- Article