Found: 12
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Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
- Published in:
- Nephrology, 2023, v. 28, n. 12, p. 649, doi. 10.1111/nep.14232
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- Publication type:
- Article
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.
- Published in:
- Familial Cancer, 2024, v. 23, n. 2, p. 133, doi. 10.1007/s10689-024-00376-1
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- Publication type:
- Article
Germline AGO2 mutations impair RNA interference and human neurological development.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
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- Publication type:
- Article
Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093409
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- Publication type:
- Article
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. 1, doi. 10.1186/s12920-018-0356-8
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- Publication type:
- Article
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
- Published in:
- 2015
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- Publication type:
- journal article
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-32
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- Publication type:
- Article
Amelioration of oxidative stress in red blood cells from patients with β-thalassemia major and intermedia and E-β-thalassemia following administration of a fermented papaya preparation.
- Published in:
- Phytotherapy Research, 2010, v. 24, n. 9, p. 1334, doi. 10.1002/ptr.3116
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- Publication type:
- Article
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.
- Published in:
- Journal of Paediatrics & Child Health, 2011, v. 47, n. 11, p. 812, doi. 10.1111/j.1440-1754.2011.02031.x
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- Publication type:
- Article
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2461, doi. 10.1002/ajmg.a.61798
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- Publication type:
- Article
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2632, doi. 10.1002/ajmg.a.37740
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- Publication type:
- Article
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.581
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- Publication type:
- Article