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/vufind/Search/Results?lookfor=%22Bainbridge%2C+Matthew+N%22&type=Person&sort=year
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PubPharm (120)
1
A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated
STXBP1
enthalten in:
bioRxiv.org
| 2023
von
McCormick, K.
|
Brock, T.
|
Wood, M.
| +13
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2
Molecular portraits of cell cycle checkpoint kinases in cancer evolution, progression, and treatment responsiveness
enthalten in:
Science advances
| 2023
von
Oropeza, E.
|
Seker, S.
|
Carrel, S.
| +12
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3
The genomic landscape of familial glioma
enthalten in:
Science advances
| 2023
von
Choi, D.
|
Armstrong, G.
|
Lozzi, B.
| +90
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4
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
enthalten in:
Genome medicine
| 2023
von
Peterson, B.
|
Hernandez, E.
|
Hobbs, C.
| +11
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5
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
enthalten in:
Genome medicine
| 2023
von
Peterson, B.
|
Hernandez, E.
|
Hobbs, C.
| +11
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6
NGLY1 deficiency : estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Stanclift, C.
|
Dwight, S.
|
Lee, K.
| +6
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7
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Stanclift, C.
|
Dwight, S.
|
Lee, K.
| +6
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8
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Stanclift, C.
|
Dwight, S.
|
Lee, K.
| +6
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9
Endocannabinoid dysfunction in neurological disease : neuro-ocular DAGLA-related syndrome
enthalten in:
Brain : a journal of neurology
| 2022
von
Bainbridge, M.
|
Mazumder, A.
|
Ogasawara, D.
| +133
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10
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
enthalten in:
Scientific reports
| 2022
von
Sanford Kobayashi, E.
|
Batalov, S.
|
Wenger, A.
| +10
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Genome medicine
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American journal of human genetics
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Breast cancer research and treatment
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Genetics in medicine : official journal of the ...
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bioRxiv.org
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Orphanet journal of rare diseases
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Cell
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Cold Spring Harbor molecular case studies
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Thema
57
Journal Article
36
Research Support, N.I.H., Extramural
29
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7
Incidence
6
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5
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4
DNA-Binding Proteins
4
Nuclear Proteins
4
Rare disease
4
Receptors, Estrogen
4
Simulation
3
Breast cancer
3
Congenital disorder of deglycosylation
3
DNA damage repair
3
DVT
3
Deep vein thrombosis
3
EC 2.7.11.1
3
Estrogen receptor
3
Exome sequencing
3
FGA
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Erscheinungszeitraum
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2020-
77
2010-2019
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