Clinical Dysmorphology
Collection
Collection
- ISSN: 09628827
Brings out case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects.
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Duane retraction syndrome, a new feature in 22q11 deletion syndrome? Article
Clinical Dysmorphology, 9(2), 135-137.F.G. Versteegh (Florens), J.S. von Lindern, J. Kemper (Johannes), E. Eichhorn (Edwin), H.J. Simonsz (Huib) and C.H. Wouters
April 2000 -
KBG syndrome associated with periventricular nodular heterotopia Article
Clinical Dysmorphology, 19(3), 164-165.R. Oegema (Renske), R. Schot (Rachel), M.C.Y. de Wit (Marie Claire), M. Leguin (Maarten), R. Oostenbrink (Rianne), I.F.M. de Coo (René) and G.M.S. Mancini (Grazia)
July 2010 -
Brachydactyly: A rare complication of sickle cell anaemia Article
Clinical Dysmorphology, 20(3), 172-173.D.G.M. Bosch (Daniëlle), C.A. van Nieuwenhoven (Christianne) and A.J.M. Hoogeboom (Jeannette)
July 2011 -
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome Article
Clinical Dysmorphology, 21(4), 212-214.E.A. Croonen (Ellen ), H.G. Yntema, R. van Minkelen (Rick), A.M.W. van den Ouweland (Ans) and I. van der Burgt (Ineke)
October 2012 -
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality Article
Clinical Dysmorphology, 23(2), 71-73.L. Baken (Leonie), I.A.L. Groenenberg (Irene), A.J.M. Hoogeboom (Jeannette), A.H.J. Koning (Anton) and N. Exalto (Niek)
January 2014 -
A patient with chromosome 18p deletion and congenital hypoglossia Article
Clinical Dysmorphology, 27(2), 46-48.S. Klaphake (Sanne), M.F. van Dooren (Marieke), Senden, R.E.M. (Richelle E.M.), A.J.M. Hoogeboom (Jeannette), E.B. Wolvius (Eppo) and M.J. Koudstaal (Maarten)
January 2018 -
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element Short case report Article
Clinical Dysmorphology, 27(2), 58-62.A. Bouman (Arjan), M.M. van Haelst (Mieke) and R.M.L. van Spaendonk (Rosalina)
February 2018