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1 Ergebnisse
1
Segmental and total uniparental isodisomy (UPiD) as a disea..:
Labrijn-Marks, Ineke
;
Somers-Bolman, Galhana M
;
Groen, Stijn L. M. In't
...
10.1038/s41431-019-0348-y. , 2019
Link:
http://hdl.handle.net/10138/303412
RT Journal T1
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders : evidence from SNP arrays
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_303412&Exemplar=1&LAN=DE A1 Labrijn-Marks, Ineke A1 Somers-Bolman, Galhana M A1 Groen, Stijn L. M. In't A1 Hoogeveen-Westerveld, Marianne A1 Kroos, Marian A A1 Ala-Mello, Sirpa A1 Amaral, Olga A1 Miranda, Clara Sa A1 Mavridou, Irene A1 Michelakakis, Helen A1 Naess, Karin A1 Verheijen, Frans W A1 Hoefsloot, Lies H A1 Dijkhuizen, Trijnie A1 Benjamins, Marloes A1 van den Hout, Hannerieke J. M A1 van der Ploeg, Ans T A1 Pijnappel, W. W. M. Pim A1 Saris, Jasper J A1 Halley, Dicky J PB Nature Publishing Group YR 2019 K1 CYSTIC-FIBROSIS K1 DISOMY K1 GENE K1 HOMOZYGOSITY K1 MOSAICISM K1 DELETION K1 PATIENT K1 Biomedicine K1 Genetics K1 developmental biology K1 physiology K1 Biochemistry K1 cell and molecular biology JF 10.1038/s41431-019-0348-y LK http://hdl.handle.net/10138/303412 DO http://hdl.handle.net/10138/303412 SF ELIB - SuUB Bremen
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