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1 . Academic Journal
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
저자
by
Dias, Kerith-Rae
;
Shrestha, Rupendra
;
Schofield, Deborah
;
Evans, Carey-Anne
;
O’Heir, Emily
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
저자
by
Renard, Marjolijn
;
Francis, Catherine
;
Ghosh, Rajarshi
;
Scott, Alan F.
;
Witmer, P. Dane
, et al.
소스
In
Journal of the American College of Cardiology
7 August 2018 72(6):605-615
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7 . Academic Journal
Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome
저자
by
Zentner, Dominica
;
West, Malcolm
;
Adès, Lesley C.
.
소스
In
Heart, Lung and Circulation
June 2017 26(6):536-544
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5 . Periodical
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
저자
by
Ewans, Lisa J.
;
Minoche, Andre E.
;
Schofield, Deborah
;
Shrestha, Rupendra
;
Puttick, Clare
, et al.
소스
European Journal of Human Genetics: EJHG; October 2022, Vol. 30 Issue: 10 p1121-1131, 11p
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7 . Academic Journal
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
저자
by
Lunke, Sebastian
;
Eggers, Stefanie
;
Wilson, Meredith
;
Patel, Chirag
;
Barnett, Christopher P.
, et al.
소스
JAMA: Journal of the American Medical Association
. 6/23/2020, Vol. 323 Issue 24, p2503-2511. 9p.
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7 . Academic Journal
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
저자
by
Gold, Wendy A.
;
Sobreira, Nara
;
Wiame, Elsa
;
Marbaix, Alexandre
;
Van Schaftingen, Emile
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2017, Vol. 173 Issue 8, p2246-2250, 5p
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7 . Academic Journal
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
저자
by
Wade, Emma M.
;
Jenkins, Zandra A.
;
Daniel, Philip B.
;
Morgan, Tim
;
Addor, Marie C.
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2017, Vol. 173 Issue 7, p1739-1746, 8p
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7 . Academic Journal
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
저자
by
Wade, Emma M.
;
Daniel, Philip B.
;
Jenkins, Zandra A.
;
McInerney-Leo, Aideen
;
Leo, Paul
, et al.
소스
American Journal of Human Genetics
. Aug2016, Vol. 99 Issue 2, p392-406. 15p.
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7 . Academic Journal
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
저자
by
Friez, Michael J.
;
Brooks, Susan Sklower
;
Stevenson, Roger E.
;
Field, Michael
;
Basehore, Monica J.
, et al.
소스
BMJ Open; 4/29/2016, Vol. 6 Issue 4, p1-9, 9p
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7 . Academic Journal
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
저자
by
Cheng, Hanyin
;
Capponi, Simona
;
Wakeling, Emma
;
Marchi, Elaine
;
Li, Quan
, et al.
소스
HUMAN MUTATION
; FEB 2020, 41 2, p449-p464, 16p.
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