دورية أكاديمية

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

التفاصيل البيبلوغرافية
العنوان: The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
المؤلفون: Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkinay, Ferda
المصدر: Human Genetics. January 2014 133(1):29-39
قاعدة البيانات: Springer Nature Journals
الوصف
تدمد:03406717
14321203
DOI:10.1007/s00439-013-1351-y