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1 Ergebnisse
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Homozygosity for a Novel DOCK7 Variant Due to Segmental Uni..:
Fatma Kivrak Pfiffner
;
Samuel Koller
;
Anika Ménétrey
...
https://www.mdpi.com/1422-0067/23/13/7382. , 2022
Link:
https://doi.org/10.3390/ijms23137382
RT Journal T1
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:cfaeb797a0d84b2b87b2e6d5c8ddb209&Exemplar=1&LAN=DE A1 Fatma Kivrak Pfiffner A1 Samuel Koller A1 Anika Ménétrey A1 Urs Graf A1 Luzy Bähr A1 Alessandro Maspoli A1 Annette Hackenberg A1 Raimund Kottke A1 Christina Gerth-Kahlert A1 Wolfgang Berger PB MDPI AG YR 2022 K1 uniparental disomy (UPD) K1 mUPiD K1 UPiD K1 UPhD K1 loss of heterozygosity (LOH) K1 early infantile epileptic encephalopathy 23 K1 Biology (General) K1 QH301-705.5 K1 Chemistry K1 QD1-999 JF https://www.mdpi.com/1422-0067/23/13/7382 LK http://dx.doi.org/https://doi.org/10.3390/ijms23137382 DO https://doi.org/10.3390/ijms23137382 SF ELIB - SuUB Bremen
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