Found: 44
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International perspectives on the implementation of reproductive carrier screening.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 1, p. 104, doi. 10.1002/mdc3.12237
- By:
- Publication type:
- Article
Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 43, doi. 10.1002/jgc4.1619
- By:
- Publication type:
- Article
Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 5, p. 1080, doi. 10.1002/jgc4.1579
- By:
- Publication type:
- Article
Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 720, doi. 10.1002/jgc4.1360
- By:
- Publication type:
- Article
Is BRCA Mutation Testing Cost Effective for Early Stage Breast Cancer Patients Compared to Routine Clinical Surveillance? The Case of an Upper Middle-Income Country in Asia.
- Published in:
- Applied Health Economics & Health Policy, 2018, v. 16, n. 3, p. 395, doi. 10.1007/s40258-018-0384-8
- By:
- Publication type:
- Article
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1697, doi. 10.1007/s00439-022-02452-x
- By:
- Publication type:
- Article
Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 155, doi. 10.1002/ajmg.c.31701
- By:
- Publication type:
- Article
Training in clinical genetics and genetic counseling in Asia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 177, doi. 10.1002/ajmg.c.31703
- By:
- Publication type:
- Article
Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 254, doi. 10.1002/ajmg.c.31690
- By:
- Publication type:
- Article
Cornelia de Lange syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
- By:
- Publication type:
- Article
Cover Image, Volume 176A, Number 5, May 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
- By:
- Publication type:
- Article
Williams–Beuren syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
- By:
- Publication type:
- Article
Noonan syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2323, doi. 10.1002/ajmg.a.38362
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 9, September 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Cover Image, Volume 173A, Number 4, April 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
22q11.2 deletion syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
- By:
- Publication type:
- Article
COVID-19 vaccination for children in Malaysia - A position statement by the College of Paediatrics, Academy of Medicine of Malaysia.
- Published in:
- Malaysian Journal of Pathology, 2022, v. 44, n. 2, p. 177
- By:
- Publication type:
- Article
Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137580
- By:
- Publication type:
- Article
Prevalence of <i>PALB2</i> Mutations in Breast Cancer Patients in Multi-Ethnic Asian Population in Malaysia and Singapore.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073638
- By:
- Publication type:
- Article
Genetic Polymorphisms in <i>LDLR</i>, <i>APOB</i>, <i>PCSK9</i> and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060729
- By:
- Publication type:
- Article
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Neural tube defects in malaysia: data from the malaysian national neonatal registry.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Neural Tube Defects in Malaysia: Data from the Malaysian National Neonatal Registry.
- Published in:
- Journal of Tropical Pediatrics, 2013, v. 59, n. 5, p. 338
- By:
- Publication type:
- Article
Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Rare disease in Malaysia: Challenges and solutions.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230850
- By:
- Publication type:
- Article
Genetic Counseling Services and Development of Training Programs in Malaysia.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 911, doi. 10.1007/s10897-013-9589-z
- By:
- Publication type:
- Article
Genetic Counseling/Consultation in South-East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 917, doi. 10.1007/s10897-013-9646-7
- By:
- Publication type:
- Article
Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.
- Published in:
- PLoS ONE, 2024, v. 19, n. 8, p. 1, doi. 10.1371/journal.pone.0307874
- By:
- Publication type:
- Article
The frequency of common mitochondrial DNA mutations in a cohort of Malaysian patients with specific mitochondrial encephalomyopathy syndromes.
- Published in:
- Neurology Asia, 2011, v. 16, n. 4, p. 321
- By:
- Publication type:
- Article
Prenatal detection of birth defects in a Malaysian population: Estimation of the influence of termination of pregnancy on birth prevalence in a developing country.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2006, v. 46, n. 1, p. 55, doi. 10.1111/j.1479-828X.2006.00516.x
- By:
- Publication type:
- Article
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 159, doi. 10.1007/s10545-010-9056-z
- By:
- Publication type:
- Article
Introducing clinical ethics consultation service in Malaysia: A SWOT analysis.
- Published in:
- Clinical Ethics, 2019, v. 14, n. 1, p. 26, doi. 10.1177/1477750919839913
- By:
- Publication type:
- Article
Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study.
- Published in:
- Familial Cancer, 2011, v. 10, n. 2, p. 199, doi. 10.1007/s10689-011-9420-7
- By:
- Publication type:
- Article
Correction: Rare disease in Malaysia: Challenges and solutions.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk.
- Published in:
- PLoS ONE, 2022, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0263675
- By:
- Publication type:
- Article
Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 952, doi. 10.3390/genes13060952
- By:
- Publication type:
- Article
Cranial neural tube defect after trimethoprim exposure.
- Published in:
- BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-3593-1
- By:
- Publication type:
- Article
Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype.
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 39, doi. 10.1002/humu.10017
- By:
- Publication type:
- Article
Effects of sharing information on drug administration errors in pediatric wards: a pre-post intervention study.
- Published in:
- 2017
- By:
- Publication type:
- journal article