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Reoperations are few and confined to the most valgus phenotypes 4 years after unrestricted calipered kinematically aligned TKA

2021 . Howell, Stephen M. | Gill, Manpreet | Shelton, Trevor J. | Nedopil, Alexander

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

2021 . Bley, Annette | Denecke, Jonas | Kohlschütter, Alfried | Schön, Gerhard | Hischke, Sandra | Guder, Philipp | Bierhals, Tatjana | Lau, Heather | Hempel, Maja | Eichler, Florian S.

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

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report

2021 . Gerber, Tiemo S. | Agaimy, Abbas | Hartmann, Arndt | Habekost, Michael | Roth, Wilfried | Stenzinger, Albrecht | Schirmacher, Peter | Straub, Beate K.

Aberrant cytokine milieu and signaling affect immune cell phenotypes and functions in tuberculosis pathology: What can we learn from this phenomenon for application to inflammatory syndromes?

2021 . Adankwah, Ernest | Seyfarth, Julia | Phillips, Richard | Jacobsen, Marc

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

NMDAR1 autoantibodies amplify behavioral phenotypes of genetic white matter inflammation: a mild encephalitis model with neuropsychiatric relevance

Heterogene neuropsychiatrische Phänotypen bei zwei erwachsenen Patient*innen mit 22q11.2-Deletionssyndrom (DiGeorge-Syndrom): ein Fall für RDoC?

2021 . Praus, Peter | Braun, Urs | Bleich, Melanie | Meyer-Lindenberg, Andreas | Hennig, Oliver

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Clinical phenotype modulates brain’s myelin and iron content in temporal lobe epilepsy

2021 . Roggenhofer, Elisabeth | Toumpouli, Evdokia | Seeck, Margitta | Wiest, Roland | Lutti, Antoine | Kherif, Ferath | Novy, Jan | Rossetti, Andrea O. | Draganski, Bogdan

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