Detalhe da pesquisa
1.
Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.
Am J Med Genet A
; : e63594, 2024 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38553895
2.
Axenfeld-Rieger syndrome: more than meets the eye.
J Med Genet
; 60(4): 368-379, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35882526
3.
Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.
J Pediatr
; 261: 113528, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37268037
4.
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
J Inherit Metab Dis
; 45(2): 366-376, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34580891
5.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33098347
6.
Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.
Am J Med Genet A
; 182(11): 2594-2604, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32893972
7.
Disease coding systems for arthrogryposis multiplex congenita.
Am J Med Genet C Semin Med Genet
; 181(3): 304-309, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31232506
8.
Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012.
Am J Med Genet A
; 176(1): 19-28, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29168277
9.
Views on the Oberg-Manske-Tonkin Classification System for Congenital Anomalies of the Hand and Upper Limb.
J Hand Surg Am
; 42(5): 378-381, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28473160
10.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet
; 92(6): 946-54, 2013 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23664116
11.
Orofacial clefts in California: No decline in Alberta, Canada.
Am J Med Genet A
; 179(6): 1077-1079, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30908857
12.
A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.
Am J Med Genet A
; 164A(9): 2385-7, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24924433
13.
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
Am J Med Genet A
; 164A(3): 676-84, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24357594
14.
Validation of congenital anomaly coding in Canada's administrative databases compared with a congenital anomaly registry.
Birth Defects Res A Clin Mol Teratol
; 100(2): 59-66, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24307632
15.
Stability of orofacial clefting rate in alberta, 1980-2011.
Cleft Palate Craniofac J
; 51(6): e113-21, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24941352
16.
Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 2018.
Birth Defects Res
; 116(3): e2295, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38179866
17.
Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada.
Birth Defects Res A Clin Mol Teratol
; 97(8): 564-70, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23913528
18.
Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.
Birth Defects Res A Clin Mol Teratol
; 97(2): 79-86, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23377898
19.
The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019. / Le système de surveillance des anomalies congénitales de l'Alberta : compte rendu des données sur 40 ans avec prévalence et tendances de certaines anomalies congénitales entre 1997 et 2019.
Health Promot Chronic Dis Prev Can
; 43(1): 40-48, 2023 Jan.
Artigo
Inglês, Francês
| MEDLINE | ID: mdl-36651885
20.
Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System.
Birth Defects Res A Clin Mol Teratol
; 94(6): 449-58, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22473636