Detalhe da pesquisa
1.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
N Engl J Med
; 387(23): 2150-2158, 2022 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351280
2.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757444
3.
Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond.
Can J Neurol Sci
; 51(2): 203-209, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892082
4.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
5.
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Am J Med Genet A
; 191(12): 2890-2897, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654102
6.
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.
Qual Life Res
; 32(8): 2319-2328, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37002464
7.
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Prenat Diagn
; 43(13): 1638-1649, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955580
8.
The Ontario Newborn Screening Program: A novel referral center model.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1205-1213, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792011
9.
Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario.
Alcohol Clin Exp Res
; 46(2): 243-251, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939205
10.
Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic Diseases.
Healthc Q
; 24(SP): 81-85, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467516
11.
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I.
Mol Genet Metab
; 133(3): 289-296, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090760
12.
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Am J Med Genet A
; 185(11): 3502-3506, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405953
13.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Can J Neurol Sci
; 48(4): 504-511, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059774
14.
Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.
BMC Pediatr
; 21(1): 296, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34210267
15.
Primary care providers' role in newborn screening result notification for cystic fibrosis.
Can Fam Physician
; 67(6): 439-448, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34127469
16.
Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.
Can Fam Physician
; 67(6): e144-e152, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34127476
17.
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Genet Med
; 22(3): 566-573, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597957
18.
Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.
J Proteome Res
; 18(3): 841-854, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30507207
19.
Postnatal gestational age estimation via newborn screening analysis: application and potential.
Expert Rev Proteomics
; 16(9): 727-731, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422714
20.
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Am J Med Genet A
; 194(7): e63590, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477541