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1 . Academic Journal
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
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In
Genetics in Medicine
September 2024 26(9)
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7 . Academic Journal
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
저자
by
Abouhala, Siwaar
;
Albert, Jessica
;
Almalvez, Miguel
;
Alvarez, Raquel
;
Amin, Mutaz
, et al.
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In
Genetics in Medicine
October 2024 26(10)
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7 . Academic Journal
Increasing equity in science requires better ethics training: A course by trainees, for trainees
저자
by
Patel, Roshni A.
;
Ungar, Rachel A.
;
Pyke, Alanna L.
;
Adimoelja, Alvina
;
Chakraborty, Meenakshi
, et al.
소스
In
Cell Genomics
8 May 2024 4(5)
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7 . Academic Journal
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
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by
Abouhala, Siwaar
;
Albert, Jessica
;
Almalvez, Miguel
;
Alvarez, Raquel
;
Amin, Mutaz
, et al.
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In
The American Journal of Human Genetics
3 August 2023 110(8):1229-1248
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7 . Report
BioJam Camp: toward justice through bioengineering and biodesign co-learning with youth
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by
Chappell, Callie
;
-A., Henry A.
;
O., Elvia B.
;
B., Emily
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B., Bailey
, et al.
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Open Access (Arxiv)
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7 . Academic Journal
P643: Transcriptome sequencing increases yield of Mendelian disease diagnosis
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by
Bonner, Devon
;
Ungar, Rachel
;
Goddard, Page
;
Kohler, Jennefer
;
Reuter, Chloe
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Periodical
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
저자
by
Chong, Jessica X.
;
Berger, Seth I.
;
Baxter, Samantha
;
Smith, Erica
;
Xiao, Changrui
, et al.
소스
Genetics in Medicine; 20240101, Issue: Preprints
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7 . Periodical
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
저자
by
Kohler, Jennefer N.
;
Legro, Nicole R.
;
Baldridge, Dustin
;
Shin, Jimann
;
Bowman, Angela
, et al.
소스
Genetics in Medicine; 20240101, Issue: Preprints
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7 . Academic Journal
Dysregulated invertebrate tropomyosin–dectin-1 interaction confers susceptibility to allergic diseases
저자
by
Gour, Naina
;
Lajoie, Stephane
;
Smole, Ursula
;
White, Marquitta
;
Hu, Donglei
, et al.
소스
Science Immunology
. Feb 23, 2018 3(20)
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7 . Academic Journal
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.
저자
by
Mak, Angel C. Y.
;
White, Marquitta J.
;
Eckalbar, Walter L.
;
Szpiech, Zachary A.
;
Oh, Sam S.
, et al.
소스
American Journal of Respiratory & Critical Care Medicine; 6/15/2018, Vol. 197 Issue 12, p1552-1564, 13p, 1 Diagram, 3 Charts, 2 Graphs
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