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1 Ergebnisse
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Clinical diversity and molecular mechanism of VPS35L-associ..:
Otsuji, Shiomi
;
Nishio, Yosuke
;
Tsujita, Maki
...
Journal of Medical Genetics. 60 (2022) 4 - p. 359-367 , 2022
Link:
https://doi.org/10.1136/jmg-2022-108602
RT Journal T1
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmg-2022-108602&Exemplar=1&LAN=DE A1 Otsuji, Shiomi A1 Nishio, Yosuke A1 Tsujita, Maki A1 Rio, Marlene A1 Huber, Céline A1 Antón-Plágaro, Carlos A1 Mizuno, Seiji A1 Kawano, Yoshihiko A1 Miyatake, Satoko A1 Simon, Marleen A1 van Binsbergen, Ellen A1 van Jaarsveld, Richard H A1 Matsumoto, Naomichi A1 Cormier-Daire, Valerie A1 J.Cullen, Peter A1 Saitoh, Shinji A1 Kato, Kohji PB BMJ YR 2022 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 60 IS 4 SP 359 OP 367 LK http://dx.doi.org/https://doi.org/10.1136/jmg-2022-108602 DO https://doi.org/10.1136/jmg-2022-108602 SF ELIB - SuUB Bremen
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