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The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Electrophoretic mobility shift assays implicate XRCC2:rs3218550C>T as a potential low-penetrant susceptibility allele for sporadic breast cancer.
- Published in:
- BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4512-9
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- Publication type:
- Article
Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case–control cohort of postmenopausal women.
- Published in:
- BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4472-0
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- Publication type:
- Article
Genetic determinants of sporadic breast cancer in Sri Lankan women.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Frequency of pharmacogenomic variants affecting safety and efficacy of immunomodulators and biologics in a South Asian population from Sri Lanka.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00674-w
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- Publication type:
- Article
Microbiome of the placenta in pre-eclampsia supports the role of bacteria in the multifactorial cause of pre-eclampsia.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2015, v. 41, n. 5, p. 662, doi. 10.1111/jog.12619
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- Publication type:
- Article
Polymorphism in the epidermal growth factor gene is associated with pre-eclampsia and low birthweight.
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- Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 5, p. 1235, doi. 10.1111/jog.12362
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- Publication type:
- Article
Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea.
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- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 5, p. 991, doi. 10.1111/j.1447-0756.2012.02063.x
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- Publication type:
- Article
Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2012, v. 38, n. 9, p. 1168, doi. 10.1111/j.1447-0756.2012.01846.x
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- Publication type:
- Article
Haplotypes of heparin-binding epidermal-growth-factor-like growth factor gene are associated with pre-eclampsia.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2012, v. 38, n. 1, p. 239, doi. 10.1111/j.1447-0756.2011.01700.x
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- Publication type:
- Article
A study of three candidate genes for pre-eclampsia in a Sinhalese population from Sri Lanka.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2009, v. 35, n. 2, p. 234, doi. 10.1111/j.1447-0756.2008.00926.x
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- Publication type:
- Article
Author Correction: A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-28552-w
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- Publication type:
- Article
Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/785830
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- Publication type:
- Article
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1317, doi. 10.1002/ajmg.a.62058
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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
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
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- Publication type:
- Article
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
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- Publication type:
- Article
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Dyskeratosis congenita with a novel genetic variant in the <italic>DKC1</italic> gene: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Morbidity and mortality associated with pre-eclampsia at two tertiary care hospitals in Sri Lanka.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2007, v. 33, n. 1, p. 56, doi. 10.1111/j.1447-0756.2007.00475.x
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- Publication type:
- Article
Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Autosomal dominant hereditary ataxia in Sri Lanka.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-39
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- Publication type:
- Article
Clinical and genetic features of Huntington disease in Sri Lanka.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-191
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- Publication type:
- Article
Clinical and genetic features of Huntington disease in Sri Lanka.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Spontaneous coronary artery dissection with leucoencephalopathy associated with thrombospondin Type 1 domain containing 1 gene mutation: a case report.
- Published in:
- European Heart Journal Case Reports, 2023, v. 7, n. 9, p. 1, doi. 10.1093/ehjcr/ytad419
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- Publication type:
- Article
Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 3/4, p. 279, doi. 10.1515/jpem-2013-0104
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- Publication type:
- Article
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
- Published in:
- 2022
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- Publication type:
- journal article
Strategies for Genomic Medicine Education in Low- and Middle-Income Countries.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00944
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- Publication type:
- Article
The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).
- Published in:
- 2018
- By:
- Publication type:
- Case Study
The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/9797104
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- Publication type:
- Article
Global implementation of genomic medicine: We are not alone.
- Published in:
- Science Translational Medicine, 2015, v. 7, n. 290, p. 1, doi. 10.1126/scitranslmed.aab0194
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- Publication type:
- Article
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 530, doi. 10.1111/cge.14208
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- Publication type:
- Article
Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01919-2
- By:
- Publication type:
- Article
Demographics, pathological characteristics and survival in urothelial bladder cancer in a cohort of Sri Lankan patients.
- Published in:
- Ceylon Medical Journal, 2022, v. 67, n. 3, p. 81, doi. 10.4038/cmj.v67i3.9694
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- Publication type:
- Article
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
- Published in:
- BMC Endocrine Disorders, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12902-019-0438-4
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- Publication type:
- Article
Genetics and genomic medicine in Sri Lanka.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.744
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- Publication type:
- Article
Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.
- Published in:
- BMC Research Notes, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13104-022-06081-5
- By:
- Publication type:
- Article
A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development.
- Published in:
- Clinical Pediatric Endocrinology, 2012, v. 21, n. 4, p. 69, doi. 10.1297/cpe.21.69
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- Publication type:
- Article
Strengthening health systems through informatics capacity development among doctors in low-resource contexts: the Sri Lankan experience.
- Published in:
- WHO South-East Asia Journal of Public Health, 2019, v. 8, n. 2, p. 87, doi. 10.4103/2224-3151.264852
- By:
- Publication type:
- Article
An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917.
- Published in:
- BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-3760-4
- By:
- Publication type:
- Article
The first Sri Lankan family with Dent disease‑1 due to a pathogenic variant in the CLCN5 gene: a case report.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2881-5
- By:
- Publication type:
- Article