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1 Ergebnisse
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Expanding the clinical and mutational spectrum of Kaufman o..:
Basel-Vanagaite, Lina
;
Yilmaz, Rüstem
;
Tang, Sha
...
Human Genetics. 133 (2014) 7 - p. 939-949 , 2014
Link:
https://doi.org/10.1007/s00439-014-1436-2
RT Journal T1
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00439-014-1436-2&Exemplar=1&LAN=DE A1 Basel-Vanagaite, Lina A1 Yilmaz, Rüstem A1 Tang, Sha A1 Reuter, Miriam S. A1 Rahner, Nils A1 Grange, Dorothy K. A1 Mortenson, Megan A1 Koty, Patrick A1 Feenstra, Heather A1 Farwell Gonzalez, Kelly D. A1 Sticht, Heinrich A1 Boddaert, Nathalie A1 Désir, Julie A1 Anyane-Yeboa, Kwame A1 Zweier, Christiane A1 Reis, André A1 Kubisch, Christian A1 Jewett, Tamison A1 Zeng, Wenqi A1 Borck, Guntram PB Springer Science and Business Media LLC YR 2014 SN 0340-6717 SN 1432-1203 JF Human Genetics VO 133 IS 7 SP 939 OP 949 LK http://dx.doi.org/https://doi.org/10.1007/s00439-014-1436-2 DO https://doi.org/10.1007/s00439-014-1436-2 SF ELIB - SuUB Bremen
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