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	1.	VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. [electronic resource] by Burkitt Wright, Emma M M Perveen, Rahat Bowers, Naomi Ramsden, Simon McCann, Emma O'Driscoll, Mary Lloyd, I Chris Clayton-Smith, Jill Black, Graeme C M Producer: 20100521 In: The British journal of ophthalmology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. [electronic resource] by Burkitt Wright, Emma M M Perveen, Rahat Clayton, Peter E Hall, Catherine M Costa, Teresa Procter, Annie M Giblin, Carol A Donnai, Dian Black, Graeme C Producer: 20091112 In: Clinical dysmorphology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Brittle cornea syndrome: recognition, molecular diagnosis and management. [electronic resource] by Burkitt Wright, Emma M M Porter, Louise F Spencer, Helen L Clayton-Smith, Jill Au, Leon Munier, Francis L Smithson, Sarah Suri, Mohnish Rohrbach, Marianne Manson, Forbes D C Black, Graeme C M Producer: 20140102 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. [electronic resource] by Burkitt-Wright, Emma M M Bradley, Lisa Shorto, Jennifer McConnell, Vivienne P M Gannon, Caroline Firth, Helen V Park, Soo-Mi D'Amore, Angela Munyard, Paul F Turnpenny, Peter D Charlton, Amanda Wilson, Meredith Kerr, Bronwyn Producer: 20121026 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. [electronic resource] by Rohrbach, Marianne Spencer, Helen L Porter, Louise F Burkitt-Wright, Emma M M Bürer, Céline Janecke, Andreas Bakshi, Madhura Sillence, David Al-Hussain, Hailah Baumgartner, Matthias Steinmann, Beat Black, Graeme C M Manson, Forbes D C Giunta, Cecilia Producer: 20140122 In: Molecular genetics and metabolism vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline. [electronic resource] by Giannoulatou, Eleni McVean, Gilean Taylor, Indira B McGowan, Simon J Maher, Geoffrey J Iqbal, Zamin Pfeifer, Susanne P Turner, Isaac Burkitt Wright, Emma M M Shorto, Jennifer Itani, Aysha Turner, Karen Gregory, Lorna Buck, David Rajpert-De Meyts, Ewa Looijenga, Leendert H J Kerr, Bronwyn Wilkie, Andrew O M Goriely, Anne Producer: 20140221 In: Proceedings of the National Academy of Sciences of the United States of America vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. [electronic resource] by Burkitt Wright, Emma M M Spencer, Helen L Daly, Sarah B Manson, Forbes D C Zeef, Leo A H Urquhart, Jill Zoppi, Nicoletta Bonshek, Richard Tosounidis, Ioannis Mohan, Meyyammai Madden, Colm Dodds, Annabel Chandler, Kate E Banka, Siddharth Au, Leon Clayton-Smith, Jill Khan, Naz Biesecker, Leslie G Wilson, Meredith Rohrbach, Marianne Colombi, Marina Giunta, Cecilia Black, Graeme C M Producer: 20110817 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. [electronic resource] by Flex, Elisabetta Jaiswal, Mamta Pantaleoni, Francesca Martinelli, Simone Strullu, Marion Fansa, Eyad K Caye, Aurélie De Luca, Alessandro Lepri, Francesca Dvorsky, Radovan Pannone, Luca Paolacci, Stefano Zhang, Si-Cai Fodale, Valentina Bocchinfuso, Gianfranco Rossi, Cesare Burkitt-Wright, Emma M M Farrotti, Andrea Stellacci, Emilia Cecchetti, Serena Ferese, Rosangela Bottero, Lisabianca Castro, Silvana Fenneteau, Odile Brethon, Benoît Sanchez, Massimo Roberts, Amy E Yntema, Helger G Van Der Burgt, Ineke Cianci, Paola Bondeson, Marie-Louise Cristina Digilio, Maria Zampino, Giuseppe Kerr, Bronwyn Aoki, Yoko Loh, Mignon L Palleschi, Antonio Di Schiavi, Elia Carè, Alessandra Selicorni, Angelo Dallapiccola, Bruno Cirstea, Ion C Stella, Lorenzo Zenker, Martin Gelb, Bruce D Cavé, Hélène Ahmadian, Mohammad R Tartaglia, Marco Producer: 20160322 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. [electronic resource] by Koczkowska, Magdalena Chen, Yunjia Callens, Tom Gomes, Alicia Sharp, Angela Johnson, Sherrell Hsiao, Meng-Chang Chen, Zhenbin Balasubramanian, Meena Barnett, Christopher P Becker, Troy A Ben-Shachar, Shay Bertola, Debora R Blakeley, Jaishri O Burkitt-Wright, Emma M M Callaway, Alison Crenshaw, Melissa Cunha, Karin S Cunningham, Mitch D'Agostino, Maria D Dahan, Karin De Luca, Alessandro Destrée, Anne Dhamija, Radhika Eoli, Marica Evans, D Gareth R Galvin-Parton, Patricia George-Abraham, Jaya K Gripp, Karen W Guevara-Campos, Jose Hanchard, Neil A Hernández-Chico, Concepcion Immken, LaDonna Janssens, Sandra Jones, Kristi J Keena, Beth A Kochhar, Aaina Liebelt, Jan Martir-Negron, Arelis Mahoney, Maurice J Maystadt, Isabelle McDougall, Carey McEntagart, Meriel Mendelsohn, Nancy Miller, David T Mortier, Geert Morton, Jenny Pappas, John Plotkin, Scott R Pond, Dinel Rosenbaum, Kenneth Rubin, Karol Russell, Laura Rutledge, Lane S Saletti, Veronica Schonberg, Rhonda Schreiber, Allison Seidel, Meredith Siqveland, Elizabeth Stockton, David W Trevisson, Eva Ullrich, Nicole J Upadhyaya, Meena van Minkelen, Rick Verhelst, Helene Wallace, Margaret R Yap, Yoon-Sim Zackai, Elaine Zonana, Jonathan Zurcher, Vickie Claes, Kathleen Martin, Yolanda Korf, Bruce R Legius, Eric Messiaen, Ludwine M Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)