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1 . Academic Journal
Genome sequencing reanalysis increases the diagnostic yield in dystonia
저자
by
Fellner, Avi
;
Wali, Gurusidheshwar M.
;
Mahant, Neil
;
Grosz, Bianca R.
;
Ellis, Melina
, et al.
소스
In
Parkinsonism and Related Disorders
July 2024 124
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7 . Academic Journal
Unscrambling cancer genomes via integrated analysis of structural variation and copy number
저자
by
Shale, Charles
;
Cameron, Daniel L.
;
Baber, Jonathan
;
Wong, Marie
;
Cowley, Mark J.
, et al.
소스
In
Cell Genomics
13 April 2022 2(4)
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7 . Academic Journal
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
저자
by
Frazier, Ann E.
;
Compton, Alison G.
;
Kishita, Yoshihito
;
Hock, Daniella H.
;
Welch, AnneMarie E.
, et al.
소스
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Med
15 January 2021 2(1):49-73
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7 . Academic Journal
Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer
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by
Allison, Sarah
;
Bailey, Peter J.
;
Bailey, Ulla-Maja
;
Biankin, Andrew V.
;
Beraldi, Dario
, et al.
소스
In
Gastroenterology
January 2021 160(1):362-377
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7 . Academic Journal
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
저자
by
Ma, Alan
;
Yousoof, Saira
;
Grigg, John R.
;
Flaherty, Maree
;
Minoche, Andre E.
, et al.
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In
Genetics in Medicine
October 2020 22(10):1623-1632
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7 . Academic Journal
Molecular patterns in salivary duct carcinoma identify prognostic subgroups
저자
by
Mueller, Simon A.
;
Gauthier, Marie-Emilie A.
;
Blackburn, James
;
Grady, John P.
;
Kraitsek, Spiridoula
, et al.
소스
In
Modern Pathology
October 2020 33(10):1896-1909
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7 . Academic Journal
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
저자
by
Kumar, Kishore R.
;
Davis, Ryan L.
;
Tchan, Michel C.
;
Wali, G.M.
;
Mahant, Neil
, et al.
소스
In
Parkinsonism and Related Disorders
December 2019 69:111-118
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7 . Academic Journal
Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma
저자
by
Mueller, Simon A.
;
Gauthier, Marie-Emilie A.
;
Ashford, Bruce
;
Gupta, Ruta
;
Gayevskiy, Velimir
, et al.
소스
In
Journal of Investigative Dermatology
July 2019 139(7):1449-1458
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7 . Academic Journal
Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma
저자
by
Allanson, Benjamin M.
;
Weber, Martin A.
;
Jackett, Louise A.
;
Chan, Charles
;
Lau, Loretta
, et al.
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In
Pathology
October 2018 50(6):648-653
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7 . Academic Journal
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
저자
by
Bagnall, Richard D.
;
Ingles, Jodie
;
Dinger, Marcel E.
;
Cowley, Mark J.
;
Ross, Samantha Barratt
, et al.
소스
In
Journal of the American College of Cardiology
24 July 2018 72(4):419-429
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