Buhas, D
162  Ergebnisse:
Personensuche X
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1

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, EF ; Chilian, M ; Karimiani, EG...
https://openaccess.sgul.ac.uk/id/eprint/115082/1/1-s2.0-S1098360022010000-main.pdf.  , 2023
 
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2

Brain monoamine vesicular transport disease caused by homoz..:

Saida, K ; Maroofian, R ; Sengoku, T...
https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdf.  , 2023
 
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3

Consensus guidelines for the diagnosis and management of py..:

Coughlin, CR ; Tseng, LA ; Abdenur, JE...
https://discovery.ucl.ac.uk/id/eprint/10115756/1/jimd.12332.pdf.  , 2021
 
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4

Enhanced cGAS-STING-dependent interferon signaling associat..:

Lepelley, A ; Della Mina, E ; Van Nieuwenhove, E...
https://discovery.ucl.ac.uk/id/eprint/10134550/1/jem_20201560.pdf.  , 2021
 
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14

Timing of therapy and neurodevelopmental outcomes in 18 fam..:

Tseng, Laura A ; Abdenur, Jose E ; Andrews, Ashley...
https://research.rug.nl/en/publications/63d3053c-677f-4f34-a202-342e3b33b377.  , 2022
 
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