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2. The iron deficiency conundrum – limitations of existing clinical practice guidelines and next steps

7. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

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

17. 0667 Learning To Phenotype RLS From Zappelphilipp (Fidgety Philip) Cartoons

18. Sleep problems in children with down syndrome

20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

31. Pyridoxine responsiveness in novel mutations of the PNPO gene

33. Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

34. PNPO mutations in patients with pyridoxine dependent epilepsy

36. The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

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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