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	1.	Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. [electronic resource] by Bowman, Michael Oldridge, Michael Archer, Caroline O'Rourke, Anthony McParland, Joanna Brekelmans, Roel Seller, Anneke Lester, Tracy Producer: 20121012 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. [electronic resource] by Ashley, Neil O'Rourke, Anthony Smith, Conrad Adams, Susan Gowda, Vasantha Zeviani, Massimo Brown, Garry K Fratter, Carl Poulton, Joanna Producer: 20080915 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy. [electronic resource] by Harrison, Victoria Hurst, Jane Lloyd-Jani, Anjali Lester, Tracy Lever, Margaret Man, Somai O'Rourke, Anthony Robinson, David Tabiner, Melody Williams, Rosy Kini, Usha Producer: 20130116 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. [electronic resource] by Goriely, Anne McVean, Gilean A T van Pelt, Ans M M O'Rourke, Anthony W Wall, Steven A de Rooij, Dirk G Wilkie, Andrew O M Producer: 20050708 In: Proceedings of the National Academy of Sciences of the United States of America vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. [electronic resource] by Uusimaa, Johanna Gowda, Vasantha McShane, Anthony Smith, Conrad Evans, Julie Shrier, Annie Narasimhan, Manisha O'Rourke, Anthony Rajabally, Yusuf Hedderly, Tammy Cowan, Frances Fratter, Carl Poulton, Joanna Producer: 20130820 In: Epilepsia vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Clinical dividends from the molecular genetic diagnosis of craniosynostosis. [electronic resource] by Wilkie, Andrew O M Bochukova, Elena G Hansen, Ruth M S Taylor, Indira B Rannan-Eliya, Sahan V Byren, Jo C Wall, Steven A Ramos, Lina Venâncio, Margarida Hurst, Jane A O'Rourke, Anthony W Williams, Louise J Seller, Anneke Lester, Tracy Producer: 20070220 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Clinical dividends from the molecular genetic diagnosis of craniosynostosis. [electronic resource] by Wilkie, Andrew O M Bochukova, Elena G Hansen, Ruth M S Taylor, Indira B Rannan-Eliya, Sahan V Byren, Jo C Wall, Steven A Ramos, Lina Venâncio, Margarida Hurst, Jane A O'rourke, Anthony W Williams, Louise J Seller, Anneke Lester, Tracy Producer: 20071109 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)