دورية أكاديمية
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
العنوان: | The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation |
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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 |
تدمد: | 03406717 14321203 |
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DOI: | 10.1007/s00439-013-1351-y |