132 results on '"Tan, Ee-Shien"'
Search Results
2. Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective
3. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
4. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
5. Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
6. Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
7. Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase
8. Germline AGO2 mutations impair RNA interference and human neurological development
9. Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
10. Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context
11. A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase
12. Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder
13. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
14. Left Ventricular Non-compaction: Is It Genetic?
15. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
16. Additional file 5 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
17. Additional file 6 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
18. Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
19. Additional file 9 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
20. Additional file 7 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
21. Additional file 8 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
22. Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth
23. Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1
24. Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
25. Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian Context
26. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
27. Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia
28. Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency
29. Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
30. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
31. Additional individuals withCHD7variants in Chinese and other southeast Asian patients
32. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders
33. 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
34. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome
35. Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
36. Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
37. Cover Image, Volume 176A, Number 5, May 2018
38. Williams–Beuren syndrome in diverse populations
39. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
40. Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
41. AB057. Inborn error of metabolism screening: timeliness and clinical service outcomes in Singapore
42. AB093. A case of exogenous C5-acylcarnitine giving rise to a false positive result in newborn screening (NBS)
43. AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome
44. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
45. KCNK9imprinting syndrome-further delineation of a possible treatable disorder
46. Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
47. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
48. Haemoglobin E-beta Thalassaemia in Singapore
49. Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern
50. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
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