Recent Advances in Imprinting Disorders
Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Journal Article
Prematurity and Genetic Testing for Neonatal Diabetes
Besser, Rachel E J, Flanagan, Sarah E, Mackay, Deborah G J, Temple, I K, Shepherd, Maggie H, Shields, Beverley M, Ellard, Sian, Hattersley, Andrew T
Published in Pediatrics (Evanston) (01.09.2016)
Published in Pediatrics (Evanston) (01.09.2016)
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Journal Article
Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1
Krepischi-Santos, A.C.V., Rajan, D., Temple, I.K., Shrubb, V., Crolla, J.A., Huang, S., Beal, S., Otto, P.A., Carter, N.P., Vianna-Morgante, A.M., Rosenberg, C.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
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Journal Article
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
Balasubramanian, M., Shield, J.P.H., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J.G., Temple, I.K.
Published in American journal of medical genetics. Part A (01.02.2010)
Published in American journal of medical genetics. Part A (01.02.2010)
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Journal Article
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
JOYCE, C. A, SHARP, A, WALKER, J. M, BULLMAN, H, TEMPLE, I. K
Published in Human genetics (01.09.1999)
Published in Human genetics (01.09.1999)
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Journal Article
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain
Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.
Published in Molecular syndromology (2012)
Published in Molecular syndromology (2012)
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Journal Article
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Körtge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, E.
Published in Human mutation (01.07.2001)
Published in Human mutation (01.07.2001)
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Journal Article
Persistent Fetal Vasculature and Severe Protein C Deficiency
Douglas, A.G.L., Rafferty, H., Hodgkins, P., Nagra, A., Foulds, N.C., Morgan, M., Temple, I.K.
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
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Journal Article
Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings
Ismail, A R, Lachlan, K L, Mumford, A D, Temple, I K, Hodgkins, P R
Published in European journal of ophthalmology (01.01.2006)
Published in European journal of ophthalmology (01.01.2006)
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Journal Article
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
Joyce, C.A., Sharp, A., Walker, J.M., Bullman, H., Temple, I.K.
Published in Human genetics (01.09.1999)
Published in Human genetics (01.09.1999)
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Journal Article
A search for uniparental disomy in carriers of supernumerary marker chromosomes
James, R S, Temple, I K, Dennis, N R, Crolla, J A
Published in European journal of human genetics : EJHG (1995)
Published in European journal of human genetics : EJHG (1995)
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Journal Article
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia: Mutations in Brief
Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Körtge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, E.
Published in Human mutation (01.07.2001)
Published in Human mutation (01.07.2001)
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Journal Article
Twelve novel mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, 998-1T, A382S, V406A) in the tissue-non specific alkaline phosphatase (TNSALP) gene in patients with various forms of Hypophosphatasia
Taillandier, A., Lia-Baldini, Anne-Sophie, Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Eckhard, J., Gaillard, Déborah, Grethe Myhre, A., Kortge-Jung, S., Larget-Piet, L., Libaers, I., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, Etienne
Published in Human mutation (2001)
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Published in Human mutation (2001)
Journal Article
Unusual presentation of fragile X syndrome
Temple, I K, Baraitser, M, Pembrey, M E, Butler, L, Jacobs, P, Davies, K E
Published in The Lancet (British edition) (03.11.1990)
Published in The Lancet (British edition) (03.11.1990)
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Journal Article