Stickler's syndrome.

Por Temple, I K
Publicado em 1989

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Por Temple, I K, Baraitser, M
Publicado em 1989

Deletion Xp22.3.

Por Temple, I K, Dennis, N R
Publicado em 1990

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

Por Coppin, B D, Temple, I K
Publicado em 1997

Dilemmas in counselling: the EEC syndrome.

Por Tse, K, Temple, I K, Baraitser, M
Publicado em 1990

Congenital spinal deformity in a three generation family.

Por Temple, I K, Thomas, T G, Baraitser, M
Publicado em 1988

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Por Law, C J, Fisher, A M, Temple, I K
Publicado em 1998

Maternal uniparental disomy for chromosome 14.

Por Temple, I K, Cockwell, A, Hassold, T, Pettay, D, Jacobs, P
Publicado em 1991

Diaphragmatic herniae and translocations involving 8q22 in two patients.

Por Temple, I K, Barber, J C, James, R S, Burge, D
Publicado em 1994

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

Por Temple, I K, Hurst, J A, Hing, S, Butler, L, Baraitser, M
Publicado em 1990

Focal dermal hypoplasia (Goltz syndrome).

Por Temple, I K, MacDowall, P, Baraitser, M, Atherton, D J
Publicado em 1990

Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age‐related penetrance: results of a clinical study of PTEN mutation carr...

Por Lachlan, K L, Lucassen, A M, Bunyan, D, Temple, I K
Publicado em 2007

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Por Houlston, R S, Renshaw, R M, James, R S, Ironton, R, Temple, I K
Publicado em 1994

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Por Temple, I K, Shrubb, V, Lever, M, Bullman, H, Mackay, D J G
Publicado em 2007

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Por Temple, I K, Shrubb, V, Lever, M, Bullman, H, Mackay, D J G
Publicado em 2009

Kyphomelic dysplasia.

Por Temple, I K, Thompson, E M, Hall, C M, Bridgeman, G, Pembrey, M E
Publicado em 1989

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration

Por Goverdhan, S V, Temple, I K, Self, J, Lotery, A J, Dixon, M J, Evans, A R
Publicado em 2005

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

Por Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.
Publicado em 2012

Persistent Fetal Vasculature and Severe Protein C Deficiency

Por Douglas, A.G.L., Rafferty, H., Hodgkins, P., Nagra, A., Foulds, N.C., Morgan, M., Temple, I.K.
Publicado em 2010

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Por Catchpoole, D, Lam, W W, Valler, D, Temple, I K, Joyce, J A, Reik, W, Schofield, P N, Maher, E R
Publicado em 1997