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Hegde, Madhuri
275
results:
Search for persons
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Format
Online (275)
Mediatypes
Articles (Online) (162)
Bookchapter (Online) (4)
OpenAccess-fulltext (109)
Sorted by: Relevance
Sorted by: Year
?
1
Parallel biochemical and genetic testing informs a timely a..:
Miller, Vanessa Rangel
;
Daugherty, Sean
;
Gupta, Rupal N.
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108015 , 2024
Link:
https://doi.org/10.1016/..
?
2
P729: Identification of multiple diagnoses in pediatric pat..:
Collins, Christin
;
Guo, Fen
;
Liu, Ruby
...
Genetics in Medicine Open. 2 (2024) - p. 101633 , 2024
Link:
https://doi.org/10.1016/..
?
3
Focused Exome Sequencing Gives a High Diagnostic Yield in t..:
Duraisamy, Arul J.
;
Liu, Ruby
;
Sureshkumar, Shruti
...
The Journal of Molecular Diagnostics. 26 (2024) 6 - p. 510-519 , 2024
Link:
https://doi.org/10.1016/..
?
4
P053: Understanding the measurement of nicotinamide adenine..:
Smith, Sara
;
Ellgass, Madeline
;
Park, Ariana
...
Genetics in Medicine Open. 2 (2024) - p. 100930 , 2024
Link:
https://doi.org/10.1016/..
?
5
Beyond Single Diagnosis: Exploring Multidiagnostic Realitie..:
Guo, Fen
;
Liu, Ruby
;
Pan, Yinghong
...
Human Mutation. 2024 (2024) - p. 1-19 , 2024
Link:
https://doi.org/10.1155/..
?
6
Evidence from 2100 index cases supports genome sequencing a..:
Guo, Fen
;
Liu, Ruby
;
Pan, Yinghong
...
Genetics in Medicine. 26 (2024) 1 - p. 100995 , 2024
Link:
https://doi.org/10.1016/..
?
7
P679: Ultrarapid whole genome sequencing facilitates early ..:
Nallamilli, Babi Ramesh Reddy
;
Lakshmanan, Jagannathan
;
Ramachander, Vinish
...
Genetics in Medicine Open. 2 (2024) - p. 101583 , 2024
Link:
https://doi.org/10.1016/..
?
8
P581: Comparison of GLA variant profile in newborn screenin..:
Chen-Deutsch, Xiangwen
;
Yousaf, Rizwan
;
Pan, Yinghong
..
Genetics in Medicine Open. 2 (2024) - p. 101487 , 2024
Link:
https://doi.org/10.1016/..
?
9
More Than a Decade of Rapid Genomic Sequencing: Where Are W..:
Saunders, Carol J
;
Brunelli, Luca
;
Deem, Michael J
...
Clinical Chemistry. 70 (2024) 4 - p. 577-583 , 2024
Link:
https://doi.org/10.1093/..
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10
P599: Beyond single nucleotide variants and copy number var..:
Liu, Ruby
;
Reddy Nallamilli, Babi Ramesh
;
Collins, Christin
..
Genetics in Medicine Open. 2 (2024) - p. 101505 , 2024
Link:
https://doi.org/10.1016/..
?
11
P714: Genome screening of newborns: Sequencing is easy, ass..:
Balciuniene, Jorune
;
Liu, Ruby
;
Bean, Lora
...
Genetics in Medicine Open. 2 (2024) - p. 101618 , 2024
Link:
https://doi.org/10.1016/..
?
12
P638: Genomic breakpoint analysis facilitates identificatio..:
Guruju, Naga
;
Jump, Vanessa
;
Liu, Ruby
...
Genetics in Medicine Open. 2 (2024) - p. 101544 , 2024
Link:
https://doi.org/10.1016/..
?
13
P696: Case presentation: Co-segregation of a rare GLA varia..:
Colasanto, Mary
;
Pan, Yinghong
;
Liu, Ruby
..
Genetics in Medicine Open. 2 (2024) - p. 101600 , 2024
Link:
https://doi.org/10.1016/..
?
14
P643: Unveiling noncoding DMD variants: Synergizing RNA seq..:
Pan, Yinghong
;
Guo, Fen
;
Ma, Zeqiang
...
Genetics in Medicine Open. 2 (2024) - p. 101549 , 2024
Link:
https://doi.org/10.1016/..
?
15
P634: Development of a hemolysis index for Vanadis® cfDNA N..:
Luo, Zhiwen
;
Shenoy, Suresh
;
Donti, Taraka
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100690 , 2023
Link:
https://doi.org/10.1016/..
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