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PubPharm (641)
1
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2
in:
Orphanet Journal of Rare Diseases
| 2024
von
Hiroki Kondou
|
Satoshi Nakano
|
Tadahaya Mizuno
| +12
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2
Trends in orphan medicinal products approvals in the European Union between 2010–2022
in:
Orphanet Journal of Rare Diseases
| 2024
von
Luísa Bouwman
|
Bruno Sepodes
|
Hubert Leufkens
| +1
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3
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
in:
Orphanet Journal of Rare Diseases
| 2024
von
Joana Poejo
|
Ana Isabel Gomes
|
Pedro Granjo
| +1
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4
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
in:
Orphanet Journal of Rare Diseases
| 2024
von
Daphne H. Schoenmakers
|
Fanny Mochel
|
Laura A. Adang
| +13
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5
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
in:
Orphanet Journal of Rare Diseases
| 2024
von
Antonio Atalaia
|
Dagmar Wandrei
|
Nawel Lalout
| +35
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6
A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave
in:
Orphanet Journal of Rare Diseases
| 2024
von
Kathleen R. Bogart
|
Annelise Hartinger
|
Maggie Klaus
| +1
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7
Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
in:
Orphanet Journal of Rare Diseases
| 2024
von
Antonia Modelhart
|
Dominique Sturz
|
Lydia Kremslehner
| +1
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8
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
in:
Orphanet Journal of Rare Diseases
| 2024
von
Stefanie Schoenen
|
Johan Verbeeck
|
Lukas Koletzko
| +8
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9
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
in:
Orphanet Journal of Rare Diseases
| 2024
von
Carole Faviez
|
Marc Vincent
|
Nicolas Garcelon
| +6
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10
Real-world evidence for coverage determination of treatments for rare diseases
in:
Orphanet Journal of Rare Diseases
| 2024
von
Victoria W. Dayer
|
Michael F. Drummond
|
Omar Dabbous
| +10
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