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A respiratory/Hirschsprung phenotype in a three‐generation ..:
Pace, Nikolai Paul
;
Pace Bardon, Michael
;
Borg, Isabella
Pace, N. P., Pace Bardon, M., & Borg, I. (2020). A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation. Molecular Genetics & Genomic Medicine, 8(12), e1528.. , 2020
Link:
https://www.um.edu.mt/library/oar/handle/123456789/931..
RT Journal T1
A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
UL https://suche.suub.uni-bremen.de/peid=base-ftunivmalta:oai:www.um.edu.mt:123456789_93129&Exemplar=1&LAN=DE A1 Pace, Nikolai Paul A1 Pace Bardon, Michael A1 Borg, Isabella PB Wiley Periodicals LLC YR 2020 K1 Genetic disorders -- Case studies K1 Hirschsprung's disease K1 Pathogenic viruses K1 Molecular genetics JF Pace, N. P., Pace Bardon, M., & Borg, I. (2020). A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation. Molecular Genetics & Genomic Medicine, 8(12), e1528. LK http://dx.doi.org/https://www.um.edu.mt/library/oar/handle/123456789/93129 DO https://www.um.edu.mt/library/oar/handle/123456789/93129 SF ELIB - SuUB Bremen
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