Found: 19
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Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.
- Published in:
- Cardiology in the Young, 2007, v. 17, n. 2, p. 215, doi. 10.1017/S1047951107000042
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- Publication type:
- Article
Duplication of the 22q11.2 region associated with congenital cardiac disease.
- Published in:
- Cardiology in the Young, 2005, v. 15, n. 2, p. 229, doi. 10.1017/S1047951105000466
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- Publication type:
- Article
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
- Published in:
- Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
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- Publication type:
- Article
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x
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- Publication type:
- Article
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
- Published in:
- 2015
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- Publication type:
- journal article
Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 283, doi. 10.1002/pd.2209
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- Publication type:
- Article
Vitamin B12 Deficiency in Infancy: The Case for Screening.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619
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- Publication type:
- Article
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
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- Publication type:
- Article
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1
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- Publication type:
- Article
Validation of the applied biosystems Prism™ 377 automated sequencer for forensic short tandem repeat analysis.
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- Electrophoresis, 1996, v. 17, n. 10, p. 1550, doi. 10.1002/elps.1150171008
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- Publication type:
- Article
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
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- Publication type:
- Article
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2959, doi. 10.1002/ajmg.a.62383
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- Publication type:
- Article
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1452, doi. 10.1002/ajmg.a.38227
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- Publication type:
- Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 596, doi. 10.1002/ajmg.a.37983
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- Publication type:
- Article
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2272, doi. 10.1002/ajmg.a.37172
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- Publication type:
- Article
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- Trials, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13063-021-05791-8
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- Publication type:
- Article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- 2021
- By:
- Publication type:
- journal article