Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis
Polubothu, S., Glover, M., Holder, S.E., Kinsler, V.A.
Published in British journal of dermatology (1951) (01.11.2018)
Published in British journal of dermatology (1951) (01.11.2018)
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Journal Article
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome
Bullman, H, Lever, M, Robinson, D O, Mackay, D J G, Holder, S E, Wakeling, E L
Published in Journal of medical genetics (01.06.2008)
Published in Journal of medical genetics (01.06.2008)
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Journal Article
Isolated non‐compaction of the ventricular myocardium: prenatal diagnosis and natural history
Karatza, A. A., Holder, S. E., Gardiner, H. M.
Published in Ultrasound in obstetrics & gynecology (01.01.2003)
Published in Ultrasound in obstetrics & gynecology (01.01.2003)
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Journal Article
The protean manifestations of RASA1 gene mutation
Nicholson, P., Holder, S. E., Carton, J., Wakelin, S.
Published in Clinical and experimental dermatology (01.10.2019)
Published in Clinical and experimental dermatology (01.10.2019)
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Journal Article
Chondrodysplasia punctata: case report and review of audiological and ENT features
Murdin, L, Sirimanna, T, Hartley, B E, Holder, S E
Published in Journal of laryngology and otology (01.03.2006)
Published in Journal of laryngology and otology (01.03.2006)
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Journal Article
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
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.
Published in Human mutation (01.07.2003)
Published in Human mutation (01.07.2003)
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Journal Article
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype
Stankiewicz, P, Park, S-S, Holder, SE, Waters, CS, Palmer, RW, Berend, SA, Shaffer, LG, Potocki, L, Lupski, JR
Published in Clinical genetics (01.11.2001)
Published in Clinical genetics (01.11.2001)
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Journal Article
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype
Holder, S E, Winter, R M, Kamath, S, Scambler, P J
Published in Journal of medical genetics (01.10.1993)
Published in Journal of medical genetics (01.10.1993)
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Journal Article
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies
Vintiner, G M, Lo, K K, Holder, S E, Winter, R M, Malcolm, S
Published in Journal of medical genetics (01.09.1993)
Published in Journal of medical genetics (01.09.1993)
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Journal Article
Partial trisomy 3q causing mild Cornelia de Lange phenotype
Holder, S E, Grimsley, L M, Palmer, R W, Butler, L J, Baraitser, M
Published in Journal of medical genetics (01.02.1994)
Published in Journal of medical genetics (01.02.1994)
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Journal Article
Conference Proceeding
Maternal Contamination at Fetal Muscle Biopsy
Overton, Timothy G., Smith, Richard P., Sewry, Caroline A., Holder, Susan E., Fisk, Nicholas M.
Published in Fetal diagnosis and therapy (01.03.2000)
Published in Fetal diagnosis and therapy (01.03.2000)
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Journal Article
The protean manifestations of RASA 1 gene mutation
Nicholson, P., Holder, S. E., Carton, J., Wakelin, S.
Published in Clinical and experimental dermatology (01.10.2019)
Published in Clinical and experimental dermatology (01.10.2019)
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Journal Article
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
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.
Published in Human molecular genetics (01.09.2009)
Published in Human molecular genetics (01.09.2009)
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Journal Article
A late presentation of Loeys–Dietz syndrome: joint hypermobility is not always benign
Mehta, Puja, Holder, Susan E., Fisher, Benjamin, Vincent, Tonia L.
Published in Rheumatology (Oxford, England) (01.03.2014)
Published in Rheumatology (Oxford, England) (01.03.2014)
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Journal Article