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1 Ergebnisse
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Macular dystrophy in Kabuki syndrome due to de novo KMT2D v..:
Vaclavik, Veronika
;
Navarro, Aurelie
;
Jacot-Guillarmod, Alain
...
Graefe's Archive for Clinical and Experimental Ophthalmology. 262 (2024) 6 - p. 1737-1744 , 2024
Link:
https://doi.org/10.1007/s00417-023-06345-1
RT Journal T1 <Title>Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00417-023-06345-1&Exemplar=1&LAN=DE A1 Vaclavik, Veronika A1 Navarro, Aurelie A1 Jacot-Guillarmod, Alain A1 Bottani, Armand A1 Sun, Young Joo A1 Franco, Joel A. A1 Mahajan, Vinit B. A1 Smirnov, Vasily A1 Bouvet-Drumare, Isabelle PB Springer Science and Business Media LLC YR 2024 SN 0721-832X SN 1435-702X JF Graefe's Archive for Clinical and Experimental Ophthalmology VO 262 IS 6 SP 1737 OP 1744 LK http://dx.doi.org/https://doi.org/10.1007/s00417-023-06345-1 DO https://doi.org/10.1007/s00417-023-06345-1 SF ELIB - SuUB Bremen
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