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Scharer, Gunter
56
results:
Format
Online (55)
Print (1)
Mediatypes
Articles (Online) (33)
Bookchapter (Online) (2)
OpenAccess-fulltext (20)
Thesis (1)
Languages
german (1)
english (49)
Sorted by: Relevance
Sorted by: Year
?
1
Updated DPYDHapB3 haplotype structure and implications for ..:
Turner, Amy J.
;
Haidar, Cyrine E.
;
Yang, Wenjian
...
Clinical and Translational Science. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1111/..
?
2
P146: BeginNGS, an artificial intelligence-enabled genome s..:
Schleit, Jennifer
;
Wright, Meredith
;
Olsen, Lauren
...
Genetics in Medicine Open. 2 (2024) - p. 101043 , 2024
Link:
https://doi.org/10.1016/..
?
3
Detection of Constitutional Structural Variants by Optical ..:
Broeckel, Ulrich
;
Iqbal, M. Anwar
;
Levy, Brynn
...
The Journal of Molecular Diagnostics. 26 (2024) 3 - p. 213-226 , 2024
Link:
https://doi.org/10.1016/..
?
4
Multisite Assessment of Optical Genome Mapping for Analysis..:
Iqbal, M. Anwar
;
Broeckel, Ulrich
;
Levy, Brynn
...
The Journal of Molecular Diagnostics. 25 (2023) 3 - p. 175-188 , 2023
Link:
https://doi.org/10.1016/..
?
5
Characterization of complex structural variation in the CYP..:
Turner, Amy J.
;
Derezinski, Ashley D.
;
Gaedigk, Andrea
...
Frontiers in Pharmacology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
A novel variant of TNNC1 associated with severe dilated car..:
Udani, Rupa
;
Schilter, Kala F.
;
Tyler, Rebecca C.
...
Journal of Genetics. 102 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1007/..
?
7
An automated 13.5 hour system for scalable diagnosis and ac..:
Owen, Mallory J.
;
Lefebvre, Sebastien
;
Hansen, Christian
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
8
eP286: Genome-to-treatment: A system to guide the acute man..:
Willis, Mary
;
Owen, Mallory
;
Lefebvre, Sebastien
...
Genetics in Medicine. 24 (2022) 3 - p. S181 , 2022
Link:
https://doi.org/10.1016/..
?
9
6. Optical genome mapping as a potential Tier1 test for Pos..:
Iqbal, M. Anwar
;
Broeckel, Ulrich
;
Levy, Brynn
...
Cancer Genetics. 264-265 (2022) - p. 2-3 , 2022
Link:
https://doi.org/10.1016/..
?
10
eP391: Optical genome mapping for constitutional postnatal ..:
Sahajpal, Nikhil
;
Rodriguez, Vanessa
;
Kanyo, Luca
...
Genetics in Medicine. 24 (2022) 3 - p. S246-S247 , 2022
Link:
https://doi.org/10.1016/..
?
11
A patient with germ-line gain-of-function PDGFRB p.N666H mu..:
Pond, Dinel
;
Arts, Florence A.
;
Mendelsohn, Nancy J.
...
Genetics in Medicine. 20 (2018) 1 - p. 142-150 , 2018
Link:
https://doi.org/10.1038/..
?
12
X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic ..:
Scalais, Emmanuel
;
Osterheld, Elise
;
Weitzel, Christiane
...
Pediatric Neurology. 71 (2017) - p. 65-69 , 2017
Link:
https://doi.org/10.1016/..
?
13
The M405V allele of the glutaryl-CoA dehydrogenase gene is ..:
Schillaci, Lori-Anne P.
;
Greene, Carol L.
;
Strovel, Erin
...
Molecular Genetics and Metabolism. 119 (2016) 1-2 - p. 50-56 , 2016
Link:
https://doi.org/10.1016/..
?
14
BAG3 myofibrillar myopathy presenting with cardiomyopathy:
Konersman, Chamindra G.
;
Bordini, Brett J.
;
Scharer, Gunter
...
Neuromuscular Disorders. 25 (2015) 5 - p. 418-422 , 2015
Link:
https://doi.org/10.1016/..
?
15
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh dis..:
Wray, Carter D.
;
Friederich, Marisa W.
;
du Sart, Desiree
...
Mitochondrion. 13 (2013) 6 - p. 656-661 , 2013
Link:
https://doi.org/10.1016/..
1-15
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