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Human Molecular Genetics|September 15, 1999
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesisG C Black, R Perveen, R Bonshek, et al.The British Journal of Ophthalmology|November 26, 2002
The ophthalmic findings in Cohen syndromeK E Chandler, S Biswas, I C Lloyd, et al.Human Molecular Genetics|August 1, 1994
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kbJ L Buxton, C T Chan, H Gilbert, et al.Clinical Genetics|February 17, 2015
Dysmorphology services: a snapshot of current practices and a vision for the futureS Douzgou, E Chervinsky, Y Gyftodimou, et al.Human Molecular Genetics|December 1, 1996
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathwayK W Brown, A J Villar, W Bickmore, et al.Clinical Genetics|May 7, 2016
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual developmentA-C Thuresson, G Van Buggenhout, F Sheth, et al.Journal of Medical Genetics|December 1, 1992
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13T Webb, J Clayton-Smith, X J Cheng, et al.Journal of Medical Genetics|November 1, 1993
Molecular mechanisms in Angelman syndrome: a survey of 93 patientsC T Chan, J Clayton-Smith, X J Cheng, et al.The British Journal of Ophthalmology|August 1, 1997
Anterior segment dysgenesis in mosaic Turner syndromeI C Lloyd, P M Haigh, J Clayton-Smith, et al.JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.Pageof 10