Found: 23
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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2
- By:
- Publication type:
- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
- By:
- Publication type:
- Article
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2711, doi. 10.1002/ajmg.a.63369
- By:
- Publication type:
- Article
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 554, doi. 10.1002/ajmg.a.63023
- By:
- Publication type:
- Article
Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
- By:
- Publication type:
- Article
Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 406, doi. 10.1002/ajmg.a.34272
- By:
- Publication type:
- Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 651, doi. 10.1038/ng.359
- By:
- Publication type:
- Article
Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0
- By:
- Publication type:
- Article
Family‐centred care interventions for children with chronic conditions: A scoping review.
- Published in:
- Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897
- By:
- Publication type:
- Article
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
- Published in:
- Paediatrics & Child Health (1205-7088), 2012, v. 17, n. 4, p. 185, doi. 10.1093/pch/17.4.185
- By:
- Publication type:
- Article
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72 : A Case Report.
- Published in:
- Journal of Geriatric Psychiatry & Neurology, 2024, v. 37, n. 2, p. 157, doi. 10.1177/08919887231195337
- By:
- Publication type:
- Article
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 628, doi. 10.1038/sj.ejhg.5201799
- By:
- Publication type:
- Article
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 20, doi. 10.1002/jmd2.12057
- By:
- Publication type:
- Article
Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 713, doi. 10.1111/cge.14418
- By:
- Publication type:
- Article
p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618
- By:
- Publication type:
- Article
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Fabry disease and nephrogenic diabetes insipidus.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 8, p. 1185, doi. 10.1007/s00467-006-0110-x
- By:
- Publication type:
- Article
Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030055
- By:
- Publication type:
- Article
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240
- By:
- Publication type:
- Article
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
- Published in:
- Canadian Journal of Neurological Sciences, 2018, v. 45, n. 2, p. 150, doi. 10.1017/cjn.2017.261
- By:
- Publication type:
- Article
Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1.
- Published in:
- Journal of Gastroenterology & Hepatology, 2013, v. 28, n. 3, p. 560, doi. 10.1111/j.1440-1746.2012.07290.x
- By:
- Publication type:
- Article