1. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Issue 11 (1st November 2001) Authors: MacDermot, K D; Holmes, A; Miners, A H Journal: Journal of medical genetics Issue: Volume 38:Issue 11(2001) Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Issue 11 (1st November 2001) Authors: MacDermot, K D; Holmes, A; Miners, A H Journal: Journal of medical genetics Issue: Volume 38:Issue 11(2001) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. Issue 10 (October 1987) Authors: MacDermot, K D; Walker, R W Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 50:Issue 10(1987) Page Start: 1342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance. Issue 10 (October 1987) Authors: MacDermot, K D; Roth, S C; Hall, C; Winter, R M Journal: Journal of medical genetics Issue: Volume 24:Issue 10(1987) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Issue 5 (23rd September 2005) Authors: Archer, H L; Whatley, S D; Evans, J C; Ravine, D; Huppke, P; Kerr, A; Bunyan, D; Kerr, B; Sweeney, E; Davies, S J; Reardon, W; Horn, J; MacDermot, K D; Smith, R A; Magee, A; Donaldson, A; Crow, Y; Hermon, G; Miedzybrodzka, Z; Cooper, D N Journal: Journal of medical genetics Issue: Volume 43:Issue 5(2006) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. Issue 6 (June 1989) Authors: MacDermot, K D; Patton, M A; Williams, M J; Winter, R M Journal: Journal of medical genetics Issue: Volume 26:Issue 6(1989) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. Issue 1 (January 1991) Authors: MacDermot, K D; Winter, R M; Taylor, D; Baraitser, M Journal: Journal of medical genetics Issue: Volume 28:Issue 1(1991) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. Issue 1 (January 1998) Authors: MacDermot, K D; Saggar-Malik, A K; Economides, D L; Jeffery, S Journal: Journal of medical genetics Issue: Volume 35:Issue 1(1998) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. Issue 1 (January 1991) Authors: MacDermot, K D; Winter, R M; Wigglesworth, J S; Strobel, S Journal: Journal of medical genetics Issue: Volume 28:Issue 1(1991) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗