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1 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Pena, Loren
;
Shashi, Vandana
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Acosta, Maria T.
, et al.
소스
In
Biological Psychiatry
15 January 2020 87(2):100-112
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7 . Academic Journal
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
저자
by
Machol, Keren
;
Jankovic, Joseph
;
Vijayakumar, Dhanya
;
Burrage, Lindsay C.
;
Jain, Mahim
, et al.
소스
Neurology: Genetics
. Aug 01, 2018 4(4)
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7 . Academic Journal
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
저자
by
Kumar, Akash
;
Zastrow, Diane B.
;
Kravets, Elijah J.
;
Beleford, Daniah
;
Ruzhnikov, Maura R. Z.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2019, Vol. 179 Issue 6, p966-977, 12p
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7 . Periodical
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
저자
by
Shashi, Vandana
;
Schoch, Kelly
;
Spillmann, Rebecca
;
Cope, Heidi
;
Tan, Queenie K.-G.
, et al.
소스
Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p161-172, 12p
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7 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling
저자
by
Johnson, Brett, V
;
Kumar, Raman
;
Oishi, Sabrina
;
Alexander, Suzy
;
Kasherman, Maria
, et al.
소스
BIOLOGICAL PSYCHIATRY
; JAN 15 2020, 87 2, p100-p112, 13p.
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7 . Academic Journal
Comprehensive genomic characterization of head and neck squamous cell carcinomas
저자
by
Lawrence, Michael S.
;
Sougnez, Carrie
;
Lichtenstein, Lee
;
Cibulskis, Kristian
;
Lander, Eric
, et al.
소스
Nature
. Jan 29, 2015 517(7536):576-582
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7 . Academic Journal
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
저자
by
Pena, Loren D. M.
;
Jiang, Yong-Hui
;
Schoch, Kelly
;
Spillmann, Rebecca C.
;
Walley, Nicole
, et al.
소스
GENETICS IN MEDICINE
; APR 2018, 20 4, p464-p469, 6p.
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7 . Periodical
Systematic evaluation of medium-throughput mRNA abundance platforms
저자
by
Prokopec, Stephenie D.
;
Watson, John D.
;
Waggott, Daryl M.
;
Smith, Ashley B.
;
Wu, Alexander H.
, et al.
소스
RNA; January 2013, Vol. 19 Issue: 1 p51-62, 12p
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7 . Academic Journal
Identification of a microRNA signature associated with risk of distant metastasis in nasopharyngeal carcinoma
저자
by
Bruce, Jeff P.
;
Hui, Angela B. Y.
;
Shi, Wei
;
Perez-Ordonez, Bayardo
;
Weinreb, Ilan
, et al.
소스
ONCOTARGET
; FEB 28 2015, 6 6, p4537-p4550, 14p.
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