Detalhe da pesquisa
1.
Province-Wide Ascertainment of Lynch Syndrome in Manitoba.
Clin Gastroenterol Hepatol
; 22(3): 642-652.e2, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879520
2.
A Canadian Provincial Screening Program for Lynch Syndrome.
Am J Gastroenterol
; 118(2): 345-353, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36219179
3.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
4.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264986
5.
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Am J Hum Genet
; 94(1): 73-9, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360803
6.
Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.
Can J Neurol Sci
; 43(6): 824-832, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940752
7.
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
J Med Genet
; 52(5): 348-52, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691505
8.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
9.
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
BMC Med Genet
; 16: 28, 2015 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925991
10.
Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia.
Neuroophthalmology
; 39(3): 125-131, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27928345
11.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet
; 89(6): 713-30, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152675
12.
Ethnicity and geographic distribution of pediatric chronic ataxia in Manitoba.
Can J Neurol Sci
; 41(1): 29-36, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24384334
13.
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
J Med Genet
; 50(12): 819-22, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065355
14.
Evaluation of a clinical genetics service--a quality initiative.
J Genet Couns
; 23(5): 881-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24647747
15.
The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada.
Dev Med Child Neurol
; 55(4): 341-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23398196
16.
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.
Res Sq
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993381
17.
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
Ann Neurol
; 69(5): 866-71, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21337604
18.
Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.
Am J Med Genet A
; 158A(4): 751-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419615
19.
Trends in telehealth versus on-site clinical genetics appointments in Manitoba: a comparative study.
J Genet Couns
; 21(2): 337-44, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21997346
20.
Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature.
Arch Gynecol Obstet
; 286(2): 299-302, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434056