148 results on '"Curtin, Julie A."'
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2. Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
3. Final results of the PUPs B-LONG study: evaluating safety and efficacy of rFIXFc in previously untreated patients with hemophilia B
4. Simplifying surgery in haemophilia B: Low factor IX consumption and infrequent infusions in surgical procedures with rIX-FP
5. Safety and Efficacy of Recombinant Fusion Protein Linking Coagulation Factor IX with Albumin (rIX-FP) in Previously Untreated Patients with Hemophilia B
6. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
7. Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity
8. Ultra-rapid genomic testing, a game changer in facilitating disease modifying treatment in a critically ill newborn
9. TRAINING THE MATURE HUNTER: Like people, horses need to 'use it or lose it' as they age
10. Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity
11. Immune tolerance induction using a factor VIII/von Willebrand factor concentrate (BIOSTATE®), with or without immunosuppression, in Australian paediatric severe haemophilia A patients with high titre inhibitors: A multicentre, retrospective study
12. Pulmonary Embolism in Children
13. Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
14. Managing Hemophilia in Children and Adolescents
15. CLTs: A Growing Trend in Affordable Home Ownership
16. A chameleon in the marrow – one germ cell tumour, two leukaemias
17. Newborn screening (NBS) for spinal muscular atrophy: the 5-year New South Wales (NSW) experience of screening 549,000 babies
18. Final results of the PUPs B-LONG study: Evaluating safety and efficacy of rFIXFc in previously untreated patients with hemophilia B
19. Once-Weekly Efanesoctocog Alfa Prophylaxis Provided High Sustained Factor VIII Activity Levels, Independent of Blood Group, in Children
20. BENCHMARKING THE MANAGEMENT OF CHILDREN WITH HAEMOPHILIA IN AUSTRALIA
21. Common Haematological Conditions in Adolescence
22. Managing Hemophilia in Children and Adolescents
23. A Practical, One-Clinic Visit Protocol for Pharmacokinetic Profile Generation with the ADVATE myPKFiT Dosing Tool in Severe Hemophilia A Subjects
24. A novel cause of DKC1 ‐related bone marrow failure: Partial deletion of the 3′ untranslated region
25. Association Between Physical Activity and Risk of Bleeding in Children With Hemophilia
26. Laboratory investigation of prekallikrein deficiency
27. Blue blood
28. Role of hydrochloric acid in the treatment of central venous catheter infections in children with cancer
29. Functional interaction between compound heterozygous TERTmutations causes severe telomere biology disorder
30. Long-Acting Recombinant Fusion Protein Linking Coagulation Factor IX with Albumin (rIX-FP) in Children
31. Updated Australian consensus statement on management of inherited bleeding disorders in pregnancy
32. Thrombotic thrombocytopenic purpura in a 13 year boy – a case report
33. Recombinant activated factor VII in neonatal cardiac surgery
34. Allogeneic bone marrow transplantation: cure for familial Mediterranean fever
35. Renal tubular dysfunction and lactic acidosis: Answers
36. Renal tubular dysfunction and lactic acidosis: Questions
37. Linezolid induced sideroblastic anaemia – a case report
38. A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias
39. Human plasma-derived FVIII/VWD concentrate (Biostate): a review of experimental and clinical pharmacokinetic, efficacy and safety data
40. Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia
41. ALPK1missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
42. Biallelic Deleterious Germline SH2B3Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity
43. Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia
44. Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency.
45. Use of Rituximab in Patients with Congenital Bleeding Disorders and High Titre Inhibitors.
46. Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA
47. Estimation of transient increases in bleeding risk associated with physical activity in children with haemophilia
48. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients
49. The effect of an exercise intervention on aerobic fitness, strength and quality of life in children with haemophilia (ACTRN012605000224628)
50. Congenital Macrothrombocytopenia and Defective Localization of the Nonmuscle Myosin Heavy Chain IIA in Leukocytes and Megakaryocytes with a Normal MYH9 Gene.
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