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Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55424-8
- By:
- Publication type:
- Article
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 358, doi. 10.1002/ajmg.a.63420
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- Publication type:
- Article
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 10, p. e2339571, doi. 10.1001/jamanetworkopen.2023.39571
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- Publication type:
- Article
3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.
- Published in:
- PLoS Digital Health, 2023, v. 1, n. 3, p. 1, doi. 10.1371/journal.pdig.0000090
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- Publication type:
- Article
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 21, doi. 10.1159/000525434
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- Publication type:
- Article
Therapeutics in paediatric genetic diseases: current and future landscape.
- Published in:
- Singapore Medical Journal, 2023, v. 64, n. 1, p. 7, doi. 10.4103/singaporemedj.SMJ-2021-376
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- Publication type:
- Article
Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3482, doi. 10.1002/ajmg.a.62974
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- Publication type:
- Article
Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2732, doi. 10.1002/ajmg.a.62879
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- Publication type:
- Article
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 672, doi. 10.1002/ajmg.a.62555
- By:
- Publication type:
- Article
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 384, doi. 10.1002/ajmg.a.62498
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- Publication type:
- Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Transforming paediatric practice by leveraging on genomic medicine.
- Published in:
- Singapore Medical Journal, 2021, v. 62, p. S13, doi. 10.11622/smedj.2021072
- By:
- Publication type:
- Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.
- Published in:
- 2020
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2010, doi. 10.1002/ajmg.a.61758
- By:
- Publication type:
- Article
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 576, doi. 10.1002/ajmg.a.61444
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- Publication type:
- Article
Turner syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461
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- Publication type:
- Article
Implementation of genomics in medical practice to deliver precision medicine for an Asian population.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0085-8
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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
Cover Image, Volume 39, Issue 1.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
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- Publication type:
- Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
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- Publication type:
- Article
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 550, doi. 10.1002/ajmg.a.38026
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- Publication type:
- Article
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
- Published in:
- Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0055-x
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- Publication type:
- Article
Left Ventricular Non-compaction: Is It Genetic?
- Published in:
- Pediatric Cardiology, 2015, v. 36, n. 8, p. 1565, doi. 10.1007/s00246-015-1222-5
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- Publication type:
- Article
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Response to Letter by Finsterer and Zarrouk.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36848
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- Publication type:
- Article
Clinical application of next-generation sequencing for Mendelian diseases.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0031-5
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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
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