377 results on '"Tan Ene Choo"'
Search Results
2. Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia
3. Large expert-curated database for benchmarking document similarity detection in biomedical literature search
4. Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant
5. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
6. Mindfulness intervention for mild cognitive impairment led to attention-related improvements and neuroplastic changes: Results from a 9-month randomized control trial
7. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders
8. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
9. Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
10. #648 Lactobacillus iners is the predominant species in the vaginal microbiome of women with high-risk HPV-infection: experience from a tertiary referral colposcopy centre in Singapore
11. Germline AGO2 mutations impair RNA interference and human neurological development
12. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia
13. Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
14. Novel and recurrent variants in PAX6in four patients with ocular phenotypes from Southeast Asia
15. TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome
16. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
17. Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
18. Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context
19. Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene
20. Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature
21. NovelLAMB3variants in two Asian patients and an overview ofLAMB3variants associated with generalized intermediate junctional epidermolysis bullosa
22. Influence of Mu-Opioid Receptor Variant on Morphine Use and Self-Rated Pain Following Abdominal Hysterectomy
23. An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature
24. Left Ventricular Non-compaction: Is It Genetic?
25. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
26. Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia
27. Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature
28. Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation.
29. Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation
30. Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation
31. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
32. Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.
33. Clinical features of a male with aUSP9Xvariant associated with intellectual disability: A case study and review of reported cases
34. Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1
35. TU36. VARIANTS IN SEROTONIN RECEPTOR GENES AND TREATMENT RESPONSE TO ESCITALOPRAM IN MAJOR DEPRESSIVE DISORDER IN ASIAN WOMEN
36. MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report
37. Mindfulness Awareness Practice (MAP) to Prevent Dementia in Older Adults with Mild Cognitive Impairment: Protocol of a Randomized Controlled Trial and Implementation Outcomes
38. Ethnic Differences in Pain Perception and Patient-Controlled Analgesia Usage for Postoperative Pain
39. Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
40. Association of carbamazepine-induced severe cutaneous drug reactions and HLA-B*1502 allele status, and dose and treatment duration in paediatric neurology patients in Singapore
41. Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype
42. Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease
43. CARD14‐associated papulosquamous eruption (CAPE) in a toddler responding to treatment with acitretin
44. Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
45. Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophrenia
46. Innate Immune and Neuronal Genetic Markers Are Highly Predictive of Postoperative Pain and Morphine Patient-Controlled Analgesia Requirements in Indian but Not Chinese or Malay Hysterectomy Patients
47. Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context
48. Identification of human Clock gene variants by denaturing high-performance liquid chromatography
49. De novo trisomy 12p in twin girls with different levels of mosaicism
50. Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and age of onset in schizophrenia: A combined analysis of independent samples
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