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The British Journal of Ophthalmology|November 26, 2002
The ophthalmic findings in Cohen syndromeK E Chandler, S Biswas, I C Lloyd, et al.Journal of Human Genetics|September 18, 2015
Deletion of 19q13 reveals clinical overlap with Dubowitz syndromeJill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, et al.Journal of Neurodevelopmental Disorders|October 7, 2019
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromesAlice Watkins, Stacey Bissell, Jo Moss, et al.Journal of Child Neurology|April 21, 2017
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3AArunabha Ghosh, Jill Urquhart, Sarah Daly, 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.American Journal of Medical Genetics. Part A|September 4, 2015
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingRüstem Yilmaz, Ana Beleza-Meireles, Susan Price, 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.Archives of Disease in Childhood|October 23, 2013
Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional featuresCharlotte W Ockeloen, Jennifer Simpson, Jill Urquhart, 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.Journal of Pediatric Genetics|August 11, 2017
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary MovementsIrena Vrečar, Josie Innes, Elizabeth A Jones, et al.Pageof 36