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PubPharm (37)
1
An evaluation of GPT models for phenotype concept recognition
in:
BMC Medical Informatics and Decision Making
| 2024
von
Tudor Groza
|
Harry Caufield
|
Dylan Gration
| +5
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2
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
in:
Scientific Reports
| 2024
von
Daniel Moynihan
|
Sean Monaco
|
Teck Wah Ting
| +16
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3
CRISPR-Cas9-generated PTCHD1 2489T
in:
HGG Advances
| 2024
von
Kathryn O. Farley
|
Catherine A. Forbes
|
Nicole C. Shaw
| +5
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4
Stigma associated with genetic testing for rare diseases—causes and recommendations
in:
Frontiers in Genetics
| 2024
von
Gareth Baynam
|
Gareth Baynam
|
Gareth Baynam
| +3
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5
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
in:
Frontiers in Public Health
| 2023
von
Savino Sciascia
|
Dario Roccatello
|
Marco Salvatore
| +31
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6
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
in:
Stem Cell Research & Therapy
| 2023
von
Vanessa S. Fear
|
Catherine A. Forbes
|
Nicole C. Shaw
| +10
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7
Surfacing undiagnosed disease: consideration, counting and coding
in:
Frontiers in Pediatrics
| 2023
von
Megan F. Baxter
|
Megan F. Baxter
|
Michele Hansen
| +7
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8
The psychosocial impact of childhood dementia on children and their parents: a systematic review
in:
Orphanet Journal of Rare Diseases
| 2023
von
Suzanne M. Nevin
|
Brittany C. McGill
|
Lauren Kelada
| +12
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9
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
in:
HGG Advances
| 2022
von
Michael A. Levy
|
Haley McConkey
|
Jennifer Kerkhof
| +84
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10
CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
in:
Stem Cell Research & Therapy
| 2022
von
Vanessa S. Fear
|
Catherine A. Forbes
|
Denise Anderson
| +7
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Erscheinungszeitraum
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2020-
11
2010-2019
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