394 results on '"Sillence, David"'
Search Results
2. Nosology of genetic skeletal disorders: 2023 revision.
3. Opalescent dentine in two affected siblings
4. Kazimierz Stanislaw Kozlowski (1928‑2022)
5. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
6. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
7. Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function
8. Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
9. Nosology of genetic skeletal disorders: 2023 revision
10. Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience
11. Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase
12. Development in Children with Achondroplasia: A Prospective Clinical Cohort Study
13. Functional Performance in Young Australian Children with Achondroplasia
14. Left Atrial Enlargement and Reduced Atrial Compliance Occurs Early in Fabry Cardiomyopathy
15. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
16. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
17. Extrapyramidal Symptoms and Medication Use in Mucopolysaccharidosis Type III
18. Ocular complications of mucopolysaccharidoses
19. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
20. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
21. Adrenoleukodystrophy: Evidence for X Linkage, Inactivation, and Selection Favoring the Mutant Allele in Heterozygous Cells
22. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes
23. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability
24. Cognitive and Psychological Functioning in Fabry Disease
25. Mutations in PYCR1 cause cutis laxa with progeroid features
26. List of Contributors
27. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta
28. Genetics and Adolescents
29. Disorders of Bone Density, Volume, and Mineralization
30. Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)
31. Mutated MESP2 causes spondylocostal dysostosis in humans
32. Gracile bone dysplasias
33. The effect of height, weight and head circumference on gross motor development in achondroplasia
34. Upregulation of inward rectifying currents and Fabry disease neuropathy
35. IMPAD1 mutations in two Catel-Manzke like patients
36. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
37. Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0–5 years
38. Variability in kyphomelic dysplasia
39. Nosology and classification of genetic skeletal disorders: 2010 revision
40. Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)
41. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
42. The natural history and osteodystrophy of mucolipidosis types II and III
43. Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome
44. Generalized arterial calcification of infancy: treatment with bisphosphonates
45. Developmental milestones in infants and young Australasian children with achondroplasia
46. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
47. Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008))
48. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
49. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
50. Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.