Andrew OM Wilkie: search on Z-Library

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1

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

Johnson, David, Wall, Steven A, Mann, Susan, Wilkie, Andrew OM

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 333 KB

english, 2000

2

Pitfalls in the phylogenomic evaluation of human disease-causing mutations

Andrew OM Wilkie

Journal:

Journal of Biology

Year:

2009

Language:

english

File:

PDF, 110 KB

english, 2009

3

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 752 KB

english, 2017

4

OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

Jasmine Lim, Anne Goriely, Gareth DH Turner, Katherine A Ewen, Grete Krag Jacobsen, Niels Graem, Andrew OM Wilkie, Ewa Rajpert-De Meyts

Journal:

The Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 457 KB

english, 2011

5

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Maher, Geoffrey J, Ralph, Hannah K, Ding, Zhihao, Koelling, Nils, Mlcochova, Hana, Giannoulatou, Eleni, Dhami, Pawan, Paul, Dirk S, Stricker, Stefan H, Beck, Stephan, McVean, Gil, Wilkie, Andrew OM, G

Journal:

Genome Research

Year:

2018

Language:

english

File:

PDF, 4.91 MB

english, 2018

6

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Charlotte L Bendon, Aimée L Fenwick, Jane A Hurst, Gudrun Nürnberg, Peter Nürnberg, Steven A Wall, Andrew OM Wilkie, David Johnson

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 849 KB

english, 2012

7

Encyclopedia of Life Sciences || Dominance and Recessivity

Wilkie, Andrew OM

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

8

A deletion ofFGFR2creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt, Andrew OM Wilkie

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 424 KB

english, 2011

9

Genetics of disease

David J Weatherall, Andrew OM Wilkie

Journal:

Current Opinion in Genetics & Development

Year:

1996

Language:

english

File:

PDF, 330 KB

english, 1996

10

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

Colin S Munro, Andrew OM Wilkie

Journal:

Year:

1998

Language:

english

File:

PDF, 376 KB

english, 1998

11

Association of mutations in FLNA with craniosynostosis

Fennell, Nathalie, Foulds, Nicola, Johnson, Diana S, Wilson, Louise C, Wyatt, Michelle, Robertson, Stephen P, Johnson, David, Wall, Steven A, Wilkie, Andrew OM

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

12

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link

Ruth MS Hansen, Anne Goriely, Steven A Wall, Ian SD Roberts, Andrew OM Wilkie

Journal:

The Journal of Pathology

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

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