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/vufind/Search/Results?lookfor=%22Shadrina%2C+Mariya%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Shadrina%2C+Mariya%22&type=Person&sort=year
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PubPharm (8)
1
Automated Identification of Germline
de novo
Mutations in Family Trios: A Consensus-Based Informatic Approach
enthalten in:
bioRxiv.org
| 2024
von
Shadrina, M.
|
Kalay, .
|
Demirkaya-Budak, S.
| +11
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2
Automated Identification of Germline de novo Mutations in Family Trios : A Consensus-Based Informatic Approach
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Shadrina, M.
|
Kalay, .
|
Demirkaya-Budak, S.
| +11
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3
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
enthalten in:
bioRxiv.org
| 2024
von
Manigbas, C.
|
Jadhav, B.
|
Garg, P.
| +4
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4
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Manigbas, C.
|
Jadhav, B.
|
Garg, P.
| +4
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5
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in
AFF3
as a significant cause of intellectual disability
enthalten in:
bioRxiv.org
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +18
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6
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +20
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7
Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes
enthalten in:
Circulation. Genomic and precision medicine
| 2023
von
Lui, M.
|
Shadrina, M.
|
Gelb, B.
| +1
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8
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis
enthalten in:
Circulation. Genomic and precision medicine
| 2021
von
Kontorovich, A.
|
Tang, Y.
|
Patel, N.
| +8
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1
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Research Support, N.I.H., Extramural
1
COL3A1 protein, human
1
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cardiomyopathies
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Erscheinungszeitraum
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2024
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2023
1
2021
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Sprache
8
Englisch
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