58 results on '"Haliloğlu G"'
Search Results
2. P07 Does spinal surgery hinder intrathecal nusinersen injections in paediatric SMA patients?
3. P06 Real-life outcome data of paediatric patients with spinal muscular atrophy treated with nusinersen: Experience from a tertiary referral center in Turkey
4. P216 Tracking bone health in paediatric patients with spinal muscular atrophy (SMA)
5. P213 Beneath the iceberg: spinal muscular atrophy (SMA) and autistic spectrum disorder
6. P116 Whole-body muscle magnetic resonance imaging (MRI) in PAX7-congenital myopathy (CM)
7. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE: 26–28th October, 2001, Naarden, The Netherlands
8. EP.127Ullrich congenital muscular dystrophy in a boy with 21q22.3 deletion: a revisited diagnosis
9. SMA THERAPIES I: P.169Nusinersen experience in spinal muscular atrophy type 1: two-year results of 21 patients
10. CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.40The distinct clinical phenotype of PIEZO2 loss of function
11. P.417 - Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights
12. P.366 - Riboflavin transporter deficiency
13. P.331 - Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic
14. P.348 - The profile and natural history of congenital muscular dystrophies
15. P.257 - Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation
16. P.252 - Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review
17. P.172 - Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation
18. P.58 - Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center
19. P.75 - Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis
20. G.P.386 - DMD registry in Turkey: Highlights
21. G.P.334 - Etiological yield of muscle biopsy in the newborn period
22. G.P.222 - Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?
23. G.P.67 - Expanding the pathological phenotype in megaconial congenital muscular dystrophy
24. G.P.19 - Perspective from spinal muscular atrophy families: Care of a child with tracheostomy and home mechanical ventilatory support
25. P193 – 2860: Many faces of Rett syndrome: Is there still a diagnostic delay?
26. P168 – 2679: Intrafamilial variability in Ehlers Danlos syndrome type VI
27. PP05.7 – 2639: Horizontal gaze palsy with progressive scoliosis (HGPPS): The role of brain MRI and diffusion tensor imaging in diagnosis
28. G.O.21: Relapsing immune mediated polyneuropathy, strokes and chronic haemolysis due to inherited CD59 deficiency
29. G.P.233: Neuroblastoma in a patient with spinal muscular atrophy (SMA) Type I: Is it just a coincidence?
30. G.P.24: Cardiomyopathy in childhood: Results from a single tertiary care center
31. Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes
32. O63 – 1788 Diagnosing the tip of an iceberg in a potentially treatable neurometabolic disorder: cerebral creatine deficiency syndromes
33. P264 – 1791 Evolution of the disease under Miglustat treatment: timeline in two patients with early-infantile NPC in the Turkish cohort
34. G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies
35. D.P.6 Whole exome sequencing applied to foetal akinesia
36. P18.9 Infantile neuroaxonal dystrophy: Are there clinical clues for early diagnosis?
37. P17.2 Neurometabolic diseases diagnosed by cerebral spinal fluid (CSF) analysis: retrospective evaluation from a tertiary center
38. P07.15 The Role of Advanced Neuroimaging in Infantile Refsum Disease
39. P05.11 Miglustat treatment in Niemann-Pick disease type C (NP-C): Clinical experience in two patients
40. P1.55 A 7-year-old girl with proximal upper limb involvement of benign monomelic amyotrophy: case report
41. G.P.17.03 Muscle histopathology in asymptomatic children with incidentally detected high CK
42. P320 A treatable metabolic myopathy: riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency and coenzyme Q10 myopathy
43. P317 Cerebral creatine deficiency syndromes: clinical and laboratory follow-up in five patients with GAMT deficiency
44. P318 Unusual presentations in Niemann Pick disease type C: Clues for early diagnosis
45. P199 Clinical and molecular evaluation of 14 Turkish patients with Dravet syndrome
46. P100 Congenital muscular dystrophy with rigid spine and early respiratory involvement: a distinct phenotype due to selenoprotein N1 (SEPN1)
47. G.P.3.04 Clinical spectrum of cytochrome-c-oxidase deficiency in children
48. G.P.2.01 Frequency of different forms of congenital muscular dystrophies in a referral center
49. IAP043 Limbic encephalitis in a 9-year-old child due to voltage-gated potassium channel antibody (VGKC-Ab)
50. IAP035 Recurrent pseudotumoural hemicerebellitis: case report of a patient with review of the literature
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