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Journal of Medical Genetics|March 1, 1993
Refining the genetic location of the gene for X linked hydrocephalus within Xq28M Jouet, E Feldman, J Yates, et al.Journal of Medical Genetics|July 1, 1993
Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and familiesC M Benjamin, A Colley, D Donnai, et al.American Journal of Medical Genetics|September 11, 1995
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrenceE M Rosser, A R Wilkinson, J A Hurst, et al.Archives of Disease in Childhood|March 1, 1984
Consanguinity and complex cardiac anomalies with situs ambiguusA R Gatrad, A P Read, G H WatsonOphthalmology|November 26, 1999
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14G C Black, R Perveen, W Wiszniewski, et al.American Journal of Human Genetics|July 1, 1993
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndromeM Tassabehji, T Strachan, M Sharland, et al.Journal of Medical Genetics|January 1, 1996
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patientsJ M McGaughran, L Gaunt, J Dore, et al.European Journal of Neurology|November 29, 2013
A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosisR W Orrell, J J Habgood, D I Shepherd, et al.Journal of Medical Genetics|April 1, 1997
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosisH Fryssira, R Palmer, K A Hallidie-Smith, et al.Lancet (London, England)|April 21, 1979
Antenatal diagnosis of Duchenne muscular dystrophyA E Emery, D Burt, V Dubowitz, et al.Pageof 19