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1 Ergebnisse
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An unusual diagnosis of alpha‐mannosidosis with ocular anom..:
Uguen, Kevin
;
Redon, Sylvia
;
Rouault, Karen
...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63532
RT Journal T1
An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63532&Exemplar=1&LAN=DE A1 Uguen, Kevin A1 Redon, Sylvia A1 Rouault, Karen A1 Pensec, Marine A1 Benech, Caroline A1 Schutz, Sacha A1 Zanlonghi, Xavier A1 Nadjar, Yann A1 Le Maréchal, Cédric A1 Férec, Claude A1 Audebert‐Bellanger, Séverine PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 5 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63532 DO https://doi.org/10.1002/ajmg.a.63532 SF ELIB - SuUB Bremen
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