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(14)
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(13)
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(5)
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Artikel
(15)
Medium
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2025
(1)
2024
(3)
2021
(8)
2020
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15 Treffer
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Kurzansicht
E-Jahr
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Typ
Operations
Clinical management of female patients with Fabry disease based on expert consensus
2025 .
BRAND, Eva BRAND
2025
http://purl.org/ontology/bibo/Article
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors
2024 .
Schmalhofer, Marie-Lena
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Farschtschi, Said
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Kluwe, Lan
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Mautner, Victor Felix
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Adam, Gerhard
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Well, Lennart
2024
http://purl.org/ontology/bibo/Article
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers
2024 .
Truninger, Moritz Ilan
|
Werner, Helene
|
Landolt, Markus
|
Hahn, Andreas
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Hennermann, Julia B.
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Lagler, Florian B.
2024
http://purl.org/ontology/bibo/Article
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome
2024 .
Braun, Sina
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Laemmer, Constanze
|
Schulte, Sandra
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Gohlke, Bettina
2024
http://purl.org/ontology/bibo/Article
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
2021 .
Körber, Laura
|
Schneider, Holm
|
Fleischer, Nicole
|
Maier-Wohlfart, Sigrun
2021
http://purl.org/ontology/bibo/Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
2021 .
Dworschak, Gabriel
|
Reutter, Heiko M.
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Ludwig, Michael
2021
http://purl.org/ontology/bibo/Article
Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)
2021 .
Avanesov, Maxim
|
Well, Lennart
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Laqmani, Azien
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Derlin, Thorsten
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Riccardi, Vincent M.
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Adam, Gerhard
|
Mautner, Victor-Felix
|
Salamon, Johannes
2021
http://purl.org/ontology/bibo/Article
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
2021 .
Reinert, Marie-Christine
|
Pacheu-Grau, David
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Catarino, Claudia B.
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Klopstock, Thomas
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Ohlenbusch, Andreas
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Schittkowski, Michael
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Wilichowski, Ekkehard
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Rehling, Peter
|
Brockmann, Knut
2021
http://purl.org/ontology/bibo/Article
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
2021 .
, Andrea
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Catarino, Claudia B.
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Rampeltshammer, Verena
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Schindler, David
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Gallenmüller, Constanze
|
Priglinger, Claudia
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Pogarell, Oliver
|
Rüther, Tobias
|
Klopstock, Thomas
2021
http://purl.org/ontology/bibo/Article
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study
2021 .
Depping, Miriam Katharina
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Uhlenbusch, Natalie
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von Kodolitsch, Yskert
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Klose, Hans F. E.
|
Mautner, Victor-Felix
|
Löwe, Bernd
2021
http://purl.org/ontology/bibo/Article
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