Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Craniofacial Abnormalities/ethnology"'
Autor:
Dorus A. Mans, Liesbeth Spruijt, Emine Bolat, Nicole de Leeuw, Janneke H M Schuurs-Hoeijmakers, Machteld M. Oud, Sylvia E. C. van Beersum, Han G. Brunner, Elisabeth A.M. Cornelissen, Valérie Cormier-Daire, Heleen H. Arts, Ronald Roepman, Ernie M.H.F. Bongers, Nine V A M Knoers
Publikováno v:
Journal of Medical Genetics, 48, 6, pp. 390-5
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. 〈10.1136/jmg.2011.088864〉
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. ⟨10.1136/jmg.2011.088864⟩
Journal of Medical Genetics; Vol 48
JOURNAL OF MEDICAL GENETICS, 48(6), 390-395. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 390-5
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. 〈10.1136/jmg.2011.088864〉
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. ⟨10.1136/jmg.2011.088864⟩
Journal of Medical Genetics; Vol 48
JOURNAL OF MEDICAL GENETICS, 48(6), 390-395. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 390-5
Contains fulltext : 95685.pdf (Publisher’s version ) (Closed access) BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, l