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eP081: Dandy Walker malformation in three unrelated familie..:
Beaman, M. Makenzie
;
Guidugli, Lucia
;
Hammer, Monia
...
Genetics in Medicine. 24 (2022) 3 - p. S53-S54 , 2022
Link:
https://doi.org/10.1016/j.gim.2022.01.118
RT Journal T1
eP081: Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.01.118&Exemplar=1&LAN=DE A1 Beaman, M. Makenzie A1 Guidugli, Lucia A1 Hammer, Monia A1 Barrows, Chelsea A1 Gregor, Anne A1 McDonald, Marie A1 Jensen, Courtney A1 Lee, Sangmoon A1 Zaki, Maha A1 Masri, Amira A1 Gleeson, Joseph A1 Cohen, Jennifer L. PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 3 SP S53 OP S54 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.01.118 DO https://doi.org/10.1016/j.gim.2022.01.118 SF ELIB - SuUB Bremen
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