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1 Ergebnisse
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A genetic and clinical study of individuals with nonsyndrom..:
Schiff, Elena R.
;
Daich Varela, Malena
;
Robson, Anthony G.
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 3 - p. 631-643 , 2020
Link:
https://doi.org/10.1002/ajmg.c.31822
RT Journal T1
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.c.31822&Exemplar=1&LAN=DE A1 Schiff, Elena R. A1 Daich Varela, Malena A1 Robson, Anthony G. A1 Pierpoint, Karen A1 Ba‐Abbad, Rola A1 Nutan, Savita A1 Zein, Wadih M. A1 Ullah, Ehsan A1 Huryn, Laryssa A. A1 Tuupanen, Sari A1 Mahroo, Omar A. A1 Michaelides, Michel A1 Burke, Derek A1 Harvey, Katie A1 Arno, Gavin A1 Hufnagel, Robert B. A1 Webster, Andrew R. PB Wiley YR 2020 SN 1552-4868 SN 1552-4876 JF American Journal of Medical Genetics Part C: Seminars in Medical Genetics VO 184 IS 3 SP 631 OP 643 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.c.31822 DO https://doi.org/10.1002/ajmg.c.31822 SF ELIB - SuUB Bremen
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