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1.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34544840
2.
Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR).
Int J Obes (Lond)
; 46(1): 85-94, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34504287
3.
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
J Med Genet
; 58(10): 653-665, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33910931
4.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568805
5.
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Arterioscler Thromb Vasc Biol
; 40(11): 2686-2699, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32938213
6.
A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing.
BMC Pregnancy Childbirth
; 21(1): 54, 2021 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33441113
7.
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
Am J Med Genet A
; 182(4): 664-672, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31880412
8.
Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals' views from Lebanon and Quebec.
BMC Med Ethics
; 21(1): 15, 2020 02 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32041603
9.
Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
Genet Med
; 21(1): 124-132, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29875419
10.
Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.
Genet Med
; 21(11): 2431-2438, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31160753
11.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Am J Med Genet A
; 179(3): 386-396, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30652412
12.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29985992
13.
The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access.
BMC Pregnancy Childbirth
; 19(1): 22, 2019 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30630440
14.
Pre-implantation Genetic Diagnosis: The Road Forward in Canada.
J Obstet Gynaecol Can
; 41(1): 68-71, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30361155
15.
Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.
J Obstet Gynaecol Can
; 41(6): 782-791, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30738740
16.
Implementation science as a leadership capability to improve patient outcomes and value in healthcare.
Healthc Manage Forum
; 32(6): 307-312, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31446791
17.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Am J Hum Genet
; 97(5): 744-53, 2015 Nov 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26477546
18.
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Prenat Diagn
; 38(1): 67-74, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28419508
19.
The CANadian Pediatric Weight management Registry (CANPWR): lessons learned from developing and initiating a national, multi-centre study embedded in pediatric clinical practice.
BMC Pediatr
; 18(1): 237, 2018 07 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-30025530
20.
Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders.
Acta Paediatr
; 107(5): 838-844, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29280190