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Deak, Kristen L.
40
results:
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Online (40)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (15)
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1
The challenges and opportunities of offering and integratin..:
Deignan, Joshua L.
;
Aggarwal, Vimla
;
Bale, Allen E.
...
Genetics in Medicine Open. , 2024
Link:
https://doi.org/10.1016/..
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2
The severity of MUSK pathogenic variants is predicted by th..:
Cocanougher, Benjamin T.
;
Liu, Samuel W.
;
Francescatto, Ludmila
...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100288 , 2024
Link:
https://doi.org/10.1016/..
?
3
P748: Duplication of 12q24.11-q24.31 in a patient with Noon..:
Francescatto, Ludmila
;
Cocanougher, Benjamin
;
Deak, Kristen
...
Genetics in Medicine Open. 2 (2024) - p. 101652 , 2024
Link:
https://doi.org/10.1016/..
?
4
P723: Identification of remarkable Y chromosome structural ..:
Miller, Eric
;
Rehder, Catherine
;
Rentas, Stefan
..
Genetics in Medicine Open. 2 (2024) - p. 101627 , 2024
Link:
https://doi.org/10.1016/..
?
5
Novel association of Dandy–Walker malformation with CAPN15 ..:
Beaman, M. Makenzie
;
Guidugli, Lucia
;
Hammer, Monia
...
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2757-2767 , 2023
Link:
https://doi.org/10.1002/..
?
6
Chronic Lymphocytic Leukemia With Two B-Cell Populations of..:
Zhao, Yue
;
Siddiqi, Imran
;
Wildes, Tyler J
...
American Journal of Clinical Pathology. 159 (2023) 4 - p. 337-351 , 2023
Link:
https://doi.org/10.1093/..
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7
A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW..:
Hijazi, Ghada
;
Paschall, Anna
;
Young, Sarah P.
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 275-276 , 2022
Link:
https://doi.org/10.1016/..
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8
Automated next-generation profiling of genomic alterations ..:
Keefer, Laurel A.
;
White, James R.
;
Wood, Derrick E.
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
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9
36. Clinical utility of copy number alteration analysis in ..:
Barron, Cynthia Reyes
;
Alomari, Ahmed
;
Aypar, Umut
...
Cancer Genetics. 268-269 (2022) - p. 12 , 2022
Link:
https://doi.org/10.1016/..
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10
A retrospective longitudinal study and comprehensive review..:
Hijazi, Ghada
;
Paschall, Anna
;
Young, Sarah P.
...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100821 , 2021
Link:
https://doi.org/10.1016/..
?
11
Detection of a mosaic CDKL5 deletion and inversion by optic..:
Cope, Heidi
;
Barseghyan, Hayk
;
Bhattacharya, Surajit
...
Molecular Genetics & Genomic Medicine. 9 (2021) 7 - p. , 2021
Link:
https://doi.org/10.1002/..
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12
Next-Generation Sequencing Concordance Analysis of Comprehe..:
Deak, Kristen L.
;
Jackson, Jennifer B.
;
Valkenburg, Kenneth C.
...
The Journal of Molecular Diagnostics. 23 (2021) 10 - p. 1324-1333 , 2021
Link:
https://doi.org/10.1016/..
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13
Alternative transcripts in variant interpretation: the pote..:
Schoch, Kelly
;
Tan, Queenie K.-G.
;
Stong, Nicholas
...
Genetics in Medicine. 22 (2020) 7 - p. 1269-1275 , 2020
Link:
https://doi.org/10.1038/..
?
14
Diagnostic testing for uniparental disomy: a points to cons..:
del Gaudio, Daniela
;
Shinawi, Marwan
;
Astbury, Caroline
...
Genetics in Medicine. 22 (2020) 7 - p. 1133-1141 , 2020
Link:
https://doi.org/10.1038/..
?
15
Acute myeloid leukemia arising from polycythemia vera under..:
Zhao, Yue
;
Sotolongo, Gina
;
Deak, Kristen
.
Hematological Oncology. 39 (2020) 2 - p. 254-257 , 2020
Link:
https://doi.org/10.1002/..
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