377 results on '"Kantaputra, Piranit"'
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2. Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians
3. Homozygosity for a Rare PLEC Variant Suggests a Contributory Role in Congenital Insensitivity to Pain
4. Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies
5. Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies
6. Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation
7. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.
8. A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies
9. Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
10. LRP4 mutations, dental anomalies, and oral exostoses.
11. LRP4 mutations, dental anomalies, and oral exostoses
12. Are dental anomalies associated with Tietz syndrome?
13. Human Leukocyte Antigen Markers for Distinguishing Pustular Psoriasis and Adult-Onset Immunodeficiency with Pustular Reaction.
14. Split hand-foot malformation and a novel WNT10B mutation
15. WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
16. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
17. Congenital Genetic Disorders and Syndromes
18. Contributors
19. Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and aCOL1A2mutation
20. Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
21. Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation
22. A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment
23. Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth
24. Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshiftSALL4variant
25. Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans
26. A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
27. SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis
28. DKK1 is a strong candidate for mesiodens and taurodontism
29. Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation
30. Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency
31. Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
32. Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis
33. TFAP2B mutation and dental anomalies
34. Periodontal disease and FAM20A mutations
35. Core promoter in TNBC is highly mutated with rich ethnic signature
36. Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome
37. Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis.
38. Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
39. Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4
40. Making extra teeth: Lessons from a TRPS1 mutation
41. Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
42. WNT10Avariant and severe scoliosis?
43. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
44. Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
45. Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2 , BBS7, and EVC2 Mutations.
46. Core promoter in TNBC is highly mutated with rich ethnic signature.
47. The Thai reference exome (T‐REx) variant database
48. Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation
49. SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency
50. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
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