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1 Ergebnisse
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Mutations in PIK3C2A cause syndromic short stature, skeleta..:
Dov Tiosano
;
Hagit N Baris
;
Anlu Chen
...
https://doi.org/10.1371/journal.pgen.1008088. , 2019
Link:
https://doi.org/10.1371/journal.pgen.1008088
RT Journal T1
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:53593e35407b4010bb8e4e02f0479df0&Exemplar=1&LAN=DE A1 Dov Tiosano A1 Hagit N Baris A1 Anlu Chen A1 Marrit M Hitzert A1 Markus Schueler A1 Federico Gulluni A1 Antje Wiesener A1 Antonio Bergua A1 Adi Mory A1 Brett Copeland A1 Joseph G Gleeson A1 Patrick Rump A1 Hester van Meer A1 Deborah A Sival A1 Volker Haucke A1 Josh Kriwinsky A1 Karl X Knaup A1 André Reis A1 Nadine N Hauer A1 Emilio Hirsch A1 Ronald Roepman A1 Rolph Pfundt A1 Christian T Thiel A1 Michael S Wiesener A1 Mariam G Aslanyan A1 David A Buchner PB Public Library of Science (PLoS) YR 2019 K1 Genetics K1 QH426-470 JF https://doi.org/10.1371/journal.pgen.1008088 LK http://dx.doi.org/https://doi.org/10.1371/journal.pgen.1008088 DO https://doi.org/10.1371/journal.pgen.1008088 SF ELIB - SuUB Bremen
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