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The British Journal of Dermatology|October 24, 2007
Novel EBP gene mutations in Conradi-Hünermann-Happle syndromeP M Steijlen, M van Geel, M Vreeburg, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43M Vreeburg, E A de Zwart-Storm, M I Schouten, et al.
The British Journal of Dermatology|October 30, 2009
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutationM Klaassens, E W Blom, J J P Schrander, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|February 28, 2013
Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spineJ van Aalst, J S H Vles, I Cuppen, et al.
The British Journal of Dermatology|October 19, 2007
Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?P H T J Slee, R I F van der Waal, J H Schagen van Leeuwen, et al.
Clinical Genetics|April 13, 2013
Cutaneous clues for diagnosing X-chromosomal disordersM Vreeburg, S C E H Sallevelt, A P A Stegmann, et al.
Oncogene|November 9, 2010
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibilityR S Preston, A Philp, T Claessens, et al.
Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.
Clinical Genetics|July 13, 2010
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisD L Smit, A R Mensenkamp, S Badeloe, et al.
British Journal of Cancer|December 8, 2011
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD familiesA C Houweling, L M Gijezen, M A Jonker, et al.
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