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1 Ergebnisse
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16p13.11 microdeletion uncovers loss‐of‐function of a MYH11..:
Kloth, Katja
;
Renner, Sina
;
Burmester, Gunter
...
Clinical Genetics. 96 (2019) 1 - p. 85-90 , 2019
Link:
https://doi.org/10.1111/cge.13557
RT Journal T1
16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13557&Exemplar=1&LAN=DE A1 Kloth, Katja A1 Renner, Sina A1 Burmester, Gunter A1 Steinemann, Doris A1 Pabst, Brigitte A1 Lorenz, Birgit A1 Simon, Ronald A1 Kolbe, Verena A1 Hempel, Maja A1 Rosenberger, Georg PB Wiley YR 2019 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 96 IS 1 SP 85 OP 90 LK http://dx.doi.org/https://doi.org/10.1111/cge.13557 DO https://doi.org/10.1111/cge.13557 SF ELIB - SuUB Bremen
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