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/vufind/Search/Results?lookfor=%22Danyel%2C+Magdalena%22&type=Person&sort=year
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PubPharm (28)
1
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score) : Comparative Diagnostic Accuracy Study
enthalten in:
Journal of medical Internet research
| 2024
von
Reiter, A.
|
Pantel, J.
|
Danyel, M.
| +3
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2
Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms
enthalten in:
Clinical journal of gastroenterology
| 2024
von
Wilken, S.
|
Thevathasan, T.
|
Kamali, C.
| +7
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3
Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms
enthalten in:
Clinical journal of gastroenterology
| 2023
von
Wilken, S.
|
Thevathasan, T.
|
Kamali, C.
| +7
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4
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
enthalten in:
bioRxiv.org
| 2023
von
Schmidt, A.
|
Danyel, M.
|
Grundmann, K.
| +167
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5
Broadening the phenotypic and molecular spectrum of FINCA syndrome : Biallelic NHLRC2 variants in 15 novel individuals
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Sczakiel, H.
|
Zhao, M.
|
Wollert-Wulf, B.
| +30
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6
Three-Dimensional Histological Characterization of the Placental Vasculature Using Light Sheet Microscopy
enthalten in:
Biomolecules
| 2023
von
Freise, L.
|
Behncke, R.
|
Allerkamp, H.
| +11
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7
Biallelic known and novel DCDC2 variants in cholestatic liver disease : Phenotype-genotype observations in four children
enthalten in:
Liver international : official journal of the International Association for the Study of the Liver
| 2023
von
Azabdaftari, A.
|
Sczakiel, H.
|
Danyel, M.
| +8
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8
FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy
enthalten in:
ResearchSquare.com
| 2023
von
Boschann, F.
|
Sczakiel, H.
|
Zhao, M.
| +21
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9
Biallelic known and novel DCDC2 variants in cholestatic liver disease : Phenotype–genotype observations in four children
enthalten in:
Liver International
| 2023
von
Azabdaftari, A.
|
Sczakiel, H.
|
Danyel, M.
| +8
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10
GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
enthalten in:
ResearchSquare.com
| 2022
von
Krawitz, P.
|
Hsieh, T.
|
Bar-Haim, A.
| +34
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28
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bioRxiv.org
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American Journal of Medical Genetics Part C: Se...
1
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1
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Frontiers in neurology
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1
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13
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8
Research Support, Non-U.S. Gov't
3
570
3
Biology
3
Case Reports
3
Dent disease
2
Benign liver tumor
2
DeepGestalt
2
Face2Gene
2
Focal nodular hyperplasia
2
Hepatic hemangioma
2
Hepatocellular adenoma
2
diagnostic accuracy
2
facial phenotyping
2
facial recognition
2
genetic syndrome
2
machine learning
2
medical genetics
1
Adaptor Proteins, Signal Transducing
1
Biomarkers
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Erscheinungszeitraum
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2020-
9
2010-2019
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