Showing results (1-10 of 9) with videos related to
Sort By:
Pageof 1
European Journal of Medical Genetics|February 22, 2015
Warsaw Breakage Syndrome--A further report, emphasising cutaneous findingsClaire Bailey, Alan E Fryer, Mark GreensladeClinical Dysmorphology|June 3, 2005
Congenital melanocytic naevus with associated neurofibroma and schwannoma-like changeEmma McCann, Alan E Fryer, George KokaiAmerican Journal of Medical Genetics. Part A|November 10, 2005
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndromeEmma McCann, Alan E Fryer, William Newman, et al.Clinical Dysmorphology|December 17, 2004
Isochromosome 20p associated with multiple congenital abnormalitiesAlan E Fryer, Michael Ashworth, Jed Hawe, et al.Clinical Dysmorphology|March 15, 2006
Genitourinary malformations as a feature of the Pallister-Hall syndromeEmma McCann, Alan E Fryer, Ross Craigie, et al.Orphanet Journal of Rare Diseases|April 6, 2018
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature reviewJames F H Pittaway, Christopher Harrison, Yumie Rhee, et al.Orphanet Journal of Rare Diseases|May 12, 2019
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature reviewJames F H Pittaway, Christopher Harrison, Yumie Rhee, et al.American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.Nature Genetics|August 30, 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.Pageof 1