A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
Poustka, A, Davies, K.E, Lorenz, B, Korn, B, Drezner, M.K, O'Riordan, J.L.H, Pannetier, S, Rowe, P.S.N, Summerfield, T, Nesbitt, T, Meindl, A, Lehrach, H, Strom, T.M, Popowska, E, Mountford, R, Cagnoli, B, Mohnike, K.L, Hanauer, A, Reinhardt, R, Read, A.P, Econs, M.J, Murken, J, de Jong, P, Goulding, J.N, Hennig, S, Meitinger, T, Oudet, C, Francis, F, Pronicka, E
Published in Nature genetics (01.10.1995)
Published in Nature genetics (01.10.1995)
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Journal Article
Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study
Hewitt, C., Wu, C‐L., Hattab, F.N., Amin, W., Ghaffar, K.A., Toomes, C., Sloan, P., Read, A.P., James, J.A., Thakker, N.S.
Published in British journal of dermatology (1951) (01.12.2004)
Published in British journal of dermatology (1951) (01.12.2004)
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The genetics of otosclerosis: pedigree studies and linkage analysis
Saeed, S R, Briggs, M, Lobo, C, Al-Zoubi, F, Ramsden, R T, Read, A P
Published in Advances in oto-rhino-laryngology (2007)
Published in Advances in oto-rhino-laryngology (2007)
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Journal Article
Apparent prevention of neural tube defects by periconceptional vitamin supplementation
Smithells, R W, Sheppard, S, Schorah, C J, Seller, M J, Nevin, N C, Harris, R, Read, A P, Fielding, D W
Published in Archives of disease in childhood (01.12.1981)
Published in Archives of disease in childhood (01.12.1981)
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Journal Article
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families
Thakker, R.V., Davies, K.E., Read, A.P., Tippett, P., Wooding, C., Flint, T., Woob, S., Kruse, T.A., Whyte, M.P., O'Riordan, J.L.H.
Published in Genomics (San Diego, Calif.) (01.10.1990)
Published in Genomics (San Diego, Calif.) (01.10.1990)
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Journal Article
Gene linkage and genetic deafness
Cremers, C.W.R.J., Brown, S.D.M., Steel, K.P., Brunner, H.G., Read, A.P., Kimberling, W.J.
Published in International journal of pediatric otorhinolaryngology (01.06.1995)
Published in International journal of pediatric otorhinolaryngology (01.06.1995)
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Conference Proceeding
X-linked and FSH dystrophies in one family
Lecky, B.R.F., MacKenzie, J.M., Read, A.P., Wilcox, D.E.
Published in Neuromuscular disorders : NMD (1991)
Published in Neuromuscular disorders : NMD (1991)
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Journal Article
Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study
Hewitt, C., Wu, C-L., Hattab, F.N., Amin, W., Ghaffar, K.A., Toomes, C., Sloan, P., Read, A.P., James, J.A., Thakker, N.S.
Published in British Journal of Dermatology (01.12.2004)
Published in British Journal of Dermatology (01.12.2004)
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Further experience of vitamin supplementation for prevention of neural tube defect recurrences
Smithells, R.W, Seller, M.J, Harris, R, Fielding, D.W, Schorah, C.J, Nevin, N.C, Sheppard, S, Read, A.P, Walker, S, Wild, J
Published in The Lancet (North American edition) (1983)
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Published in The Lancet (North American edition) (1983)
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