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  • 4 Similar Profiles
Huntington Disease Medicine & Life Sciences
Mutation Medicine & Life Sciences
Breast Neoplasms Medicine & Life Sciences
Clubfoot Medicine & Life Sciences
Alleles Medicine & Life Sciences
Ovarian Neoplasms Medicine & Life Sciences
Genes Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences

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Research Output 1995 2019

5 Downloads (Pure)
Open Access
File
Hyperlipoproteinemia Type II
Genetic Testing
Parents
Therapeutics
Social Adjustment
1 Downloads (Pure)
Open Access
File
2 Citations (Scopus)

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

Quarrell, O. W., Clarke, A. J., Compton, C., de Die-Smulders, C. E. M., Fryer, A., Jenkins, S., Lahiri, N., MacLeod, R., Miedzybrodzka, Z., Morrison, P. J., Musgrave, H., O'Driscoll, M., Strong, M., van Belzen, M. J., Vermeer, S., Verschuuren-Bemelmans, C. C. & Bijlsma, E. K., 30 Jan 2018, In : American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 177, 1, p. 35 - 39 5 p.

Research output: Contribution to journalArticle

Minors
Huntington Disease
Netherlands
Guidelines
Genome
2 Citations (Scopus)
4 Downloads (Pure)

Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience

Rust, K., Spiliopoulou, P., Tang, C. Y., Bell, C., Stirling, D., Phang, T. H. F., Davidson, R., Mackean, M., Nussey, F., Glasspool, R., Reed, N., Sadozye, A., Porteous, M., McGoldrick, T., Ferguson, M., Miedzybrodzka, Z., McNeish, I. A. & Gourley, C., Oct 2018, In : BJOG-An International Journal of Obstetrics and Gynaecology. 125, 11, p. 1451-1458 8 p.

Research output: Contribution to journalArticle

Open Access
File
Life Change Events
Carcinoma
Ovarian Neoplasms
Mutation
BRCA2 Gene
2 Citations (Scopus)
4 Downloads (Pure)

The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse

Collinson, J. M., Lindstrom, N. O., Neves, C., Wallace, K., Meharg, C., Charles, R., Fraser, A., Mbogo, I., Oras, K., Nakamoto, M., Barker, S., Duce, S., Miedzybrodzka, Z. & Vargesson, N., 8 Feb 2018, In : Development. 145, 3, dev160093.

Research output: Contribution to journalArticle

Open Access
File
Charcot-Marie-Tooth Disease
Clubfoot
Lim Kinases
Motor Neurons
Sciatic Nerve