142 results on '"Stockler S"'
Search Results
2. The iron deficiency conundrum – limitations of existing clinical practice guidelines and next steps
3. Sleep as an outcome measure in ADHD Randomized Controlled Trials>
4. A review of iron deficiency guidelines in the context of iron deficiency-associated sleep/wake behaviours
5. Sleep-Related Treatment-Emergent Adverse Events (TEAEs) in ADHD Randomized Controlled Trials (RCTs) Investigating Amphetamine-Based Stimulants: A Scoping Review
6. Active Involvement of Children in ADHD Randomized Control Trials Assessing Sleep
7. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
8. Long term follow-up of the dietary intake in propionic acidemia
9. Long term follow-up of the dietary intake in propionic acidemia
10. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
11. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
12. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
13. Review of iron deficiency guidelines in the context of iron deficiency-related sleep/wake behaviours
14. Iron deficiency in indigenous populations in Canada And Alaska: a scoping literature review
15. Iron deficiency and neurodevelopmental disorders (Adhd, Autism, Fetal Alcohol Spectrum Disorder/Fasd) - a scoping review
16. Iron deficiency and sleep - a scoping review
17. 0667 Learning To Phenotype RLS From Zappelphilipp (Fidgety Philip) Cartoons
18. Sleep problems in children with down syndrome
19. Comorbidities and access to health care in a Canadian cohort of individuals with down syndrome
20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
21. Expert video analysis (EVA)-video-viewer-prototype for annotating sleep/wake behaviour videos
22. Communication error analysis of sleep/wake-behaviour assessments: The need for optimizing communication and data gathering with new technologies
23. Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice
24. Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS)
25. Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
26. MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency
27. 2015 update on triple therapy for pyridoxine-dependent epilepsy
28. P152 – 2914: Falling asleep and sleep maintenance challenges due to Willis-Ekbom disease/restless legs syndrome (WED/RLS) in children with Down syndrome (DS)
29. PP12.12 – 3038: Phenotyping children with neurodevelopmental conditions (NDCs), major Insomnia and familial Willis Ekbom disease/restless legs syndrome (WED/RLS)
30. P153 – 2931: A comparison of the informal & formal suggested clinical immobilization test (SCIT) results for diagnosing familial Willis Ekbom disease/restless legs syndrome (WED/RLS) in clinical practice
31. Pyridoxine responsiveness in novel mutations of the PNPO gene
32. Treatable inborn errors of metabolism causing neurological symptoms in adults
33. Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
34. PNPO mutations in patients with pyridoxine dependent epilepsy
35. Intracranial Calcification after Cord Blood Neonatal Transplantation for Krabbe Disease
36. The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases
37. Child Neurology: Krabbe disease: A potentially treatable white matter disorder.
38. Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency)
39. Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
40. Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
41. Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines-How to Overcome the Current Conundrum?
42. Morquio B disease: a case report.
43. Family-centred care interventions for children with chronic conditions: A scoping review.
44. Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).
45. Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
46. Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13 C-glucose breath test.
47. Iron deficiency and common neurodevelopmental disorders-A scoping review.
48. Disruptive Behaviors and Intellectual Disability: Creating a New Script.
49. Development of minimally invasive 13 C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.
50. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
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