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1 Ergebnisse
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Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:
Whittle, Ella F.
;
Chilian, Madison
;
Karimiani, Ehsan Ghayoor
...
Genetics in Medicine. 25 (2023) 2 - p. 100332 , 2023
Link:
https://doi.org/10.1016/j.gim.2022.11.001
RT Journal T1
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.11.001&Exemplar=1&LAN=DE A1 Whittle, Ella F. A1 Chilian, Madison A1 Karimiani, Ehsan Ghayoor A1 Progri, Helga A1 Buhas, Daniela A1 Kose, Melis A1 Ganetzky, Rebecca D. A1 Toosi, Mehran Beiraghi A1 Torbati, Paria Najarzadeh A1 Badv, Reza Shervin A1 Shelihan, Ivan A1 Yang, Hui A1 Elloumi, Houda Zghal A1 Lee, Sukyeong A1 Jamshidi, Yalda A1 Pittman, Alan M. A1 Houlden, Henry A1 Ignatius, Erika A1 Rahman, Shamima A1 Maroofian, Reza A1 Yoon, Wan Hee A1 Carroll, Christopher J. PB Elsevier BV YR 2023 SN 1098-3600 JF Genetics in Medicine VO 25 IS 2 SP 100332 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.11.001 DO https://doi.org/10.1016/j.gim.2022.11.001 SF ELIB - SuUB Bremen
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