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1 . Academic Journal
Amyloïdose héréditaire à transthyrétine accompagnée d'un syndrome du canal carpien.
저자
by
Zaki, Nicole
;
Miller, Nicholas J.
;
Frosk, Patrick
;
Sharma, Aditya
.
소스
Canadian Medical Association Journal (CMAJ)
. 4/15/2024, Vol. 196 Issue 14, pE501-E505. 5p.
Full Text (Clinical Key)
Scopus
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6 . Academic Journal
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
저자
by
Abdelfatah, Nelly
;
Chen, Ruping
;
Duff, Henry J.
;
Seifer, Colette M.
;
Buffo, Ilan
, et al.
소스
In
JACC: Basic to Translational Science
April 2019 4(2):204-221
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7 . Academic Journal
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
저자
by
de Kock, Leanne
;
Cuillerier, Alexanne
;
Gillespie, Meredith
;
Couse, Madeline
;
Hartley, Taila
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-10, 10p
Scopus
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7 . Academic Journal
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.
저자
by
Zaki, Nicole
;
Miller, Nicholas J.
;
Frosk, Patrick
;
Sharma, Aditya
.
소스
Canadian Medical Association Journal (CMAJ)
. 1/29/2024, Vol. 196 Issue 3, pE95-E99. 5p.
Full Text (Clinical Key)
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6 . Periodical
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
저자
by
Le Voyer, Tom
;
Parent, Audrey V.
;
Liu, Xian
;
Cederholm, Axel
;
Gervais, Adrian
, et al.
소스
Nature; November 2023, Vol. 623 Issue: 7988 p803-813, 11p
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7 . Academic Journal
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
저자
by
Sleiman, Sophie
;
Marshall, Aren E
;
Dong, Xiaomin
;
Mhanni, Aziz
;
Alidou-D'Anjou, Ismaël
, et al.
소스
Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p614-624, 11p
Full Text (OUP)
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7 . Academic Journal
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
저자
by
Dawson, Angelika J.
;
Hovanes, Karine
;
Liu, Jing
;
Marles, Sandra
;
Greenberg, Cheryl
, et al.
소스
Clinical Dysmorphology
. Oct 07, 2020
Full Text (LWW)
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7 . Academic Journal
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
저자
by
Dawson, Angelika J.
;
Hovanes, Karine
;
Liu, Jing
;
Marles, Sandra
;
Greenberg, Cheryl
, et al.
소스
Clinical Dysmorphology; Apr2021, Vol. 30 Issue 2, p83-88, 6p
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7 . Periodical
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
저자
by
Whalen, Sandra
;
Shaw, Marie
;
Mignot, Cyril
;
Héron, Delphine
;
Bastaraud, Sandra Chantot
, et al.
소스
European Journal of Human Genetics: EJHG; September 2021, Vol. 29 Issue: 9 p1405-1417, 13p
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7 . Academic Journal
The importance of functional validation after next‐generation sequencing: evaluation of a novel CARD11 variant.
저자
by
Lu, Henry Y.
;
Sharma, Mehul
;
Biggs, Catherine M.
;
Huang, Yu‐Hsuan
;
Shopsowitz, Kevin E.
, et al.
소스
Pediatric Allergy & Immunology
. Sep2018, Vol. 29 Issue 6, p663-668. 5p.
Scopus
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