Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis von Polubothu, S., Glover, M., Holder, S.E., Kinsler, V.A.

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Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome von Bullman, H, Lever, M, Robinson, D O, Mackay, D J G, Holder, S E, Wakeling, E L

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The protean manifestations of RASA1 gene mutation von Nicholson, P., Holder, S. E., Carton, J., Wakelin, S.

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Isolated non‐compaction of the ventricular myocardium: prenatal diagnosis and natural history von Karatza, A. A., Holder, S. E., Gardiner, H. M.

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Chondrodysplasia punctata: case report and review of audiological and ENT features von Murdin, L, Sirimanna, T, Hartley, B E, Holder, S E

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A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome von Boardman, J P, Syrris, P, Holder, S E, Robertson, N J, Carter, N, Lakhoo, K

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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene von Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

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Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype von Holder, S E, Winter, R M, Kamath, S, Scambler, P J

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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype von Stankiewicz, P, Park, S-S, Holder, SE, Waters, CS, Palmer, RW, Berend, SA, Shaffer, LG, Potocki, L, Lupski, JR

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Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate von Holder, S E, Vintiner, G M, Farren, B, Malcolm, S, Winter, R M

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Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies von Vintiner, G M, Lo, K K, Holder, S E, Winter, R M, Malcolm, S

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No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate von Vintiner, G M, Holder, S E, Winter, R M, Malcolm, S

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Partial trisomy 3q causing mild Cornelia de Lange phenotype von Holder, S E, Grimsley, L M, Palmer, R W, Butler, L J, Baraitser, M

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The protean manifestations of RASA 1 gene mutation von Nicholson, P., Holder, S. E., Carton, J., Wakelin, S.

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism von de Smith, Adam J., Purmann, Carolin, Walters, Robin G., Ellis, Richard J., Holder, Susan E., Van Haelst, Mieke M., Brady, Angela F., Fairbrother, Una L., Dattani, Mehul, Keogh, Julia M., Henning, Elana, Yeo, Giles S.H., O'Rahilly, Stephen, Froguel, Philippe, Farooqi, I. Sadaf, Blakemore, Alexandra I.F.

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Otopalatodigital syndrome type II von Holder, S E, Winter, R M

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Cleft lip--is there light at the end of the tunnel? von Holder, S E

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Maternal Contamination at Fetal Muscle Biopsy von Overton, Timothy G., Smith, Richard P., Sewry, Caroline A., Holder, Susan E., Fisk, Nicholas M.

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Skeletal muscle involvement in infantile systemic hyalinosis von Zolkipli, Zarazuela, Longman, Cheryl, Brown, Sue, Rahman, Nazneen, Holder, S.E, Muntoni, Francesco

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A late presentation of Loeys–Dietz syndrome: joint hypermobility is not always benign von Mehta, Puja, Holder, Susan E., Fisher, Benjamin, Vincent, Tonia L.

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