van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and con- genital contractures: clinical delineation and recurrence in brothers. Am J Med Genet 2003;118A:267-273.Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. 2003. van den Ende-Gupta syndrome of blepharophimosis, ...
van den Bergh, A.A. Hymans van den Bergh, A.A. Hymans van den Bergh, AA Hymans Van Den Boomen Intermedia Van Den Bosch Yachting Van Den Ende-Gupta Syndrome Van Der Bauwede Van der Donck, Adrien van der Goes van der Goes Van der Goes, Hugo Van der Graaf Generator Van der Graaff...
van den Bergh's test van den Bergh, A.A. Hymans van den Bergh, A.A. Hymans van den Bergh, AA Hymans Van Den Boomen Intermedia Van Den Bosch Yachting Van Den Ende-Gupta Syndrome Van Der Bauwede Van der Donck, Adrien van der Goes van der Goes Van der Goes, Hugo Van der Graaf ...
Define Van der Hum. Van der Hum synonyms, Van der Hum pronunciation, Van der Hum translation, English dictionary definition of Van der Hum. n South African a liqueur with tangerine flavouring Collins English Dictionary – Complete and Unabridged, 12th Ed
Van den Ende-Gupta syndromeVan den Ende鈥揋upta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, a narrow and convex nasal ...
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome . Am J Hum Genet 2010; 87 :553–9Anastasio N, Ben-Omran T, Teebi A, Ha KCH, Lalonde E, et al. (2010) Mutations in SCARF2 are responsible for van den Ende-Gupta syndrome. Am J Hum Genet 87(4): 553-559. doi...
Leal GF, Silva EO. Van den Ende-Gupta syndrome: Evidence for genetic heterogeneity. Am J Med Genet Part A. 2009; 149A:1293-1295. [PubMed: 19449421]Leal GF, Silva EO. 2009. Van den Ende-Gupta syndrome: Evidence for genetic heterogeneity. Am J Med Genet Part A 149A:1293-1295....
Anastasio N, Ben-Omran T, Teebi A, Ha KCH, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. 2010. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet 87:553-559....
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.doi:10.1159/000328135Mf BedeschiL ColomboFrancesca MariK HofmannA RauchB GentilinAlessandra RenieriD. ClericiKarger PublishersBedeschi, M. F., Colombo, L., Mari, F., ...
Twitter Google Share on Facebook van den Bergh (van den bērg), A.A.H., Dutch physician, 1869-1943. See:van den Bergh test. Farlex Partner Medical Dictionary © Farlex 2012 Want to thank TFD for its existence?Tell a friend about us, add a link to this page, or visitthe webmaster...