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1.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-35916082
2.
The impact of technological endodontic resources on the training of the general dentist.
Eur J Dent Educ
; 25(2): 332-341, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33012127
3.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32753734
4.
Unique retinal signaling defect in GNB5-related disease.
Doc Ophthalmol
; 140(3): 273-277, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31720979
5.
DNA barcoding a unique avifauna: an important tool for evolution, systematics and conservation.
BMC Evol Biol
; 19(1): 52, 2019 02 11.
Article
in English
| MEDLINE | ID: mdl-30744573
6.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Am J Hum Genet
; 98(5): 1011-1019, 2016 05 05.
Article
in English
| MEDLINE | ID: mdl-27063057
7.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Hum Mol Genet
; 25(11): 2283-2294, 2016 06 01.
Article
in English
| MEDLINE | ID: mdl-27008867
8.
Characterization of MHC class I in a long-distance migrant shorebird suggests multiple transcribed genes and intergenic recombination.
Immunogenetics
; 65(3): 211-25, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23239370
9.
Engaging parents to research childhood interventions aimed at preventing common health problems.
CMAJ
; 190(Suppl): S22-S23, 2018 11 07.
Article
in English
| MEDLINE | ID: mdl-30404844
10.
Randomized controlled trial evaluating a virtual parenting intervention for young children at risk of obesity: study protocol for Parenting Addressing Early Years Intervention with Coaching Visits in Toronto (PARENT) trial.
Trials
; 24(1): 8, 2023 Jan 04.
Article
in English
| MEDLINE | ID: mdl-36600302
11.
Factors associated with research participation in a large primary care practice-based pediatric cohort: Results from the TARGet Kids! longitudinal cohort study.
PLoS One
; 18(4): e0284192, 2023.
Article
in English
| MEDLINE | ID: mdl-37040376
12.
Eight independent nuclear genes support monophyly of the plovers: the role of mutational variance in gene trees.
Mol Phylogenet Evol
; 65(2): 631-41, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22842291
13.
Multiple independent origins of mitochondrial control region duplications in the order Psittaciformes.
Mol Phylogenet Evol
; 64(2): 342-56, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22543055
14.
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.
J AAPOS
; 26(4): 202-205, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35872165
15.
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.
Transl Vis Sci Technol
; 11(2): 10, 2022 Feb 01.
Article
in English
| MEDLINE | ID: mdl-35119474
16.
Parent engagement in co-design of clinical trials: the PARENT trial.
Trials
; 22(1): 347, 2021 May 17.
Article
in English
| MEDLINE | ID: mdl-34001229
17.
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Genes (Basel)
; 12(3)2021 02 25.
Article
in English
| MEDLINE | ID: mdl-33668843
18.
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Genes (Basel)
; 12(9)2021 08 29.
Article
in English
| MEDLINE | ID: mdl-34573334
19.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Invest Ophthalmol Vis Sci
; 62(15): 26, 2021 12 01.
Article
in English
| MEDLINE | ID: mdl-34940782
20.
Phylogenetic and coalescent analysis of three loci suggest that the Water Rail is divisible into two species, Rallus aquaticus and R. indicus.
BMC Evol Biol
; 10: 226, 2010 Jul 23.
Article
in English
| MEDLINE | ID: mdl-20653954