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1 Ergebnisse
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Segmental and total uniparental isodisomy (UPiD) as a disea..:
Labrijn-Marks, Ineke
;
Somers-Bolman, Galhana M
;
In 't Groen, Stijn L. M
...
https://www.nature.com/articles/s41431-019-0348-y. , 2020
Link:
http://hdl.handle.net/10400.18/6554
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-ftinssaudelisboa:oai:repositorio.insa.pt:10400.18_6554&Exemplar=1&LAN=DE A1 Labrijn-Marks, Ineke A1 Somers-Bolman, Galhana M A1 In 't Groen, Stijn L. M 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 Springer Nature/ European Society of Human Genetics YR 2020 K1 Lysiosomal Diseases K1 Human Genetics K1 Genetic Diagnosis K1 Uniparental Disomy K1 Doenças Genéticas K1 Genética Humana JF https://www.nature.com/articles/s41431-019-0348-y LK http://hdl.handle.net/10400.18/6554 DO http://hdl.handle.net/10400.18/6554 SF ELIB - SuUB Bremen
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