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Group by: Author | Type
Jump to: B | C | H | I | L | M | R | Y
Number of items: 17.

B

Bitoun, E; Chavanas, S; Irvine, AD; Paradisi, M; Bodemer, C; Hamel-Teillac, D; ... Hovnanian, A; + view all (2000) Novel mutations in SPINK5 encoding a serine-protease inhibitor in Netherton syndrome, a severe congenital ichthyosis with hair abnormalities and atopic manifestations. The American Journal of Human Genetics , 67 (4) 2138 - ?.

C

Chavanas, S; Bodemer, C; Rochat, A; Hamel-Teillac, D; Ali, M; Irvine, AD; ... Hovnanian, A; + view all (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genetics , 25 (2) 141 - 142.

Chavanas, S; Garner, C; Bodemer, C; Ali, M; Hamel-Teillac, D; Wilkinson, J; ... Hovnanian, A; + view all (2000) Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. The American Journal of Human Genetics , 66 (3) 914 - 921.

Cookson, WO; Ubhi, B; Walley, A; Lawrence, R; Cox, H; Coleman, R; ... Harper, JI; + view all (2000) A genome-wide search for linkage to atopic dermatitis and underlying quantitative traits. The American Journal of Human Genetics , 67 (4) 1700 - ?.

H

Harper, JC; (2000) Preimplantation Genetic Diagnosis. In: Dale, and Elder,, (eds.) In Vitro Fertilisation. Cambridge University Press: Cambridge.

Harper, JC; Delhanty, JD; (2000) Preimplantation genetic diagnosis. Current Opinion in Obstetrics and Gynecology , 12 (2) 67 - 72.

Harper, JC; Delhanty, JDA; (2000) Preimplantation Genetic Diagnosis. In: Rodeck, CH and Whittle, MJ, (eds.) Fetal Medicine: Basic Science and Clinical Practice. Churchill Livingstone: London.

Harper, JI; Lacour, M; Hoeger, P; Ahmed, I; Barclay, G; Berth-Jones, J; ... Sumner, MJ; + view all (2000) Cyclosporin for severe childhood atopic dermatitis: Short course versus continuous therapy. British Journal of Dermatology , 142 (1) 52 - 58. 10.1046/j.1365-2133.2000.03241.x.

Hilhorst-Hofstee, Y; Shah, N; Atherton, D; Harper, JI; Milla, P; Winter, RM; (2000) Radial aplasia, poikiloderma and auto-immune enterocolitis - new syndrome or severe form of Rothmund-Thomson syndrome? Clinical Dysmorphology , 9 (2) 79 - 85.

Hoeger, PH; Nanduri, VR; Harper, JI; Atherton, DJ; Pritchard, J; (2000) Long term follow up of topical mustine treatment for cutaneous Langerhans cell histiocytosis. Archives of Disease in Childhood , 82 (6) 483 - 487.

I

Ioulianos, A; Wells, D; Harper, JC; Delhanty, JDA; (2000) A successful strategy for preimplantation genetic diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Prenatal Diagnosis , 20 593 - 598.

L

Lim, A; Trautmann, L; Peyrat, MA; Couedel, C; Davodeau, F; Romagne, F; ... Bonneville, M; + view all (2000) Frequent contribution of T cell clonotypes with public TCR features to the chronic response against a dominant EBV-derived epitope: Application to direct detection of their molecular imprint on the human peripheral T cell repertoire. J IMMUNOL , 165 (4) 2001 - 2011.

M

Martinez, A; Malone, M; Hoeger, P; Palmer, R; Harper, JI; (2000) Lipoatrophic panniculitis and chromosome 10 abnormality. British Journal of Dermatology , 142 (5) 1034 - 1039.

Moore, GE; Ruangvutilert, P; Chatzimeletiou, K; Bell, G; Chen, CK; Johnson, P; Harper, JC; (2000) Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. Eur J Hum Genet , 8 (3) 223 - 228. 10.1038/sj.ejhg.5200436.

R

Ruangvutilert, P; Delhanty, JDA; Rodeck, CH; Harper, JC; (2000) Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic and triploid fibroblast cultures. Prenatal Diagnosis , 20 (2) 159 - 162.

Ruangvutilert, P; Delhanty, JDA; Serhal, P; Rodeck, CH; Harper, JC; Simopoulou,; (2000) FISH analysis on day 5 post insemination of human arrested and blastocyst stage embryos. Prenatal Diagnosis , 20 (7) 552 - 560.

Y

Yates, R; Syed, S; Tsang, V; Harper, JI; (2000) Haemangioma of the head and neck with subglottic involvement and atypical coarctation. British Journal of Dermatology , 143 (3) 686 - 688.

This list was generated on Sun Aug 31 04:06:33 2014 BST.