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1 . Academic Journal
Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas
저자
by
Blake Vuocolo
;
Roberta Sierra
;
Daniel Brooks
;
Christopher Holder
;
Lauren Urbanski
, et al.
소스
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder
저자
by
Lindsay Burrage
;
Denise Lanza
;
Paul Marcogliese
;
Di Lu
;
Chih-Wei Logan Hsu
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101070- (2024)
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7 . Academic Journal
P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform
저자
by
Blake Vuocolo
;
Roberta Sierra
;
Dan Brooks
;
Kent Carter
;
Keila Rodriguez
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101412- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders
저자
by
Kristina Macakova
;
Jefferson Sinson
;
Sen Zhao
;
Hongzheng Dai
;
Jill Rosenfeld
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101654- (2024)
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7 . Academic Journal
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression
저자
by
Jordan Kho
;
Urszula Polak
;
Ming-Ming Jiang
;
John D. Odom
;
Jill V. Hunter
, et al.
소스
JCI Insight, Vol 8, Iss 17 (2023)
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7 . Academic Journal
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance
저자
by
Bridget M. Stroup
;
Xiaohui Li
;
Sara Ho
;
Haonan Zhouyao
;
Yuqing Chen
, et al.
소스
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
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7 . Academic Journal
P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities
저자
by
Scott Ward
;
Lindsay Burrage
;
Jill Rosenfeld
;
Carlos Bacino
;
Brendan Lee
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100376- (2023)
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7 . Academic Journal
P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform
저자
by
Dan Brooks
;
Blake Vuocolo
;
Roberta Sierra
;
Christopher Holder
;
Lauren Urbanski
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100410- (2023)
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7 . Academic Journal
Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice
저자
by
Dominik Fröhlich
;
Elizabeth Kalotay
;
Georg von Jonquieres
;
Andre Bongers
;
Brendan Lee
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 15 (2022)
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7 . Academic Journal
Evaluation of extracorporeal cardiopulmonary resuscitation eligibility criteria for out-of-hospital cardiac arrest patients
저자
by
Brendan Lee
;
Adam Clay
;
Eric Sy
.
소스
BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
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