Search details
1.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med
; 24(2): 430-438, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906486
2.
Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation.
J Genet Couns
; 26(1): 93-104, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27271536
3.
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Laryngoscope
; 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38426810
4.
Assessing the Performance of the Clinician-reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-rater Reliability.
Clin Ther
; 45(8): 729-735, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37516567
5.
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.
Eur J Endocrinol
; 181(2): 121-128, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31137009
6.
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Am J Med Genet A
; 143A(24): 3286-9, 2007 Dec 15.
Article
in English
| MEDLINE | ID: mdl-18000904
7.
Primary ciliary dyskinesia: mechanisms and management.
Appl Clin Genet
; 10: 67-74, 2017.
Article
in English
| MEDLINE | ID: mdl-29033599
8.
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
Arch Ophthalmol
; 124(2): 205-9, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16476890
9.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
NPJ Genom Med
; 12016 Jan 13.
Article
in English
| MEDLINE | ID: mdl-28567303
10.
Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.
Am J Med Genet
; 107(1): 38-42, 2002 Jan 01.
Article
in English
| MEDLINE | ID: mdl-11807865
11.
Detecting rearrangements in children using subtelomeric FISH and SKY.
Am J Med Genet
; 107(4): 267-74, 2002 Feb 01.
Article
in English
| MEDLINE | ID: mdl-11840482
12.
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.
Neuromuscul Disord
; 20(5): 340-2, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20338762
13.
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
BMJ Case Rep
; 20092009.
Article
in English
| MEDLINE | ID: mdl-21686683
14.
DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paper.
J Genet Couns
; 11(4): 241-3, 2002 Aug.
Article
in English
| MEDLINE | ID: mdl-12735296
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