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1 . Academic Journal
P324: Ocular findings as the most striking manifestation of a SMAD3 variant
저자
by
Noémie Villeneuve-Cloutier
;
Christie Boswell-Patterson
;
Josée Martineau
;
Krista Vincent
;
Andrea Yu
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101218- (2024)
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7 . Academic Journal
P541: Development of a provincial genetics program in Ontario
저자
by
Kathleen Bell
;
Raymond Kim
;
Aaron Pollett
;
Wilson Yu
;
Syed Ahmed
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101440- (2024)
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7 . Academic Journal
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
저자
by
Katharine Fooks
;
Lydia Vermeer
;
Elise Poole
;
Stephanie Luca
;
Riyana Babul-Hirji
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101780- (2024)
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7 . Academic Journal
P873: 'If you look for a problem, you’ll find one': A qualitative study to understand why parents/adult patients decline secondary findings
저자
by
Abigail Hansen
;
Stephanie Luca
;
Olivia Moran
;
Riyana Babul-Hirji
;
Joyce Yan
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101787- (2024)
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7 . Academic Journal
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report
저자
by
Aren E. Marshall
;
Stella K. MacDonald
;
Yijing Liang
;
Madeline Couse
;
Care4Rare Canada Consortium
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
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7 . Academic Journal
P382: Professionals’ perspectives on the use of digital tools to support patient recontact in clinical genetics
저자
by
Guylaine D'Amours
;
Emma Reble
;
Vernie Aguda
;
Marc Clausen
;
Salma Shickh
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100418- (2023)
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7 . Academic Journal
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient
저자
by
Joe Davis Velchev
;
Aline Verstraeten
;
Josephina Meester
;
Peter Ponsaerts
;
Julie Richer
, et al.
소스
Stem Cell Research, Vol 64, Iss , Pp 102932- (2022)
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7 . Academic Journal
Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
저자
by
Meghna Rajaprakash
;
Julie Richer
;
Erick Sell
.
소스
Epilepsy and Behavior Case Reports, Vol 10, Iss , Pp 133-136 (2018)
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5 .
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
저자
by
Julia Hunter‐Schouela
;
Michael T. Geraghty
;
Robert A. Hegele
;
David A. Dyment
;
David St Pierre
, et al.
소스
Pediatric Pulmonology
.
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7 .
Expanded Prenatal Testing: Maintaining a Non-Directive Approach to Promote Reproductive Autonomy
저자
by
Vardit Ravitsky
;
Marie-Christine Roy
;
Julie Richer
;
Marie-Françoise Malo
;
Tierry M. Laforce
, et al.
소스
The American Journal of Bioethics
. 22:39-42
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