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	1.	4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. [electronic resource] by Urquhart, Jill Black, Graeme C M Clayton-Smith, Jill Producer: 20100201 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Vitreous phenotype: genotype correlation in Stickler syndrome. [electronic resource] by McLeod, David Black, Graeme C M Bishop, Paul N Producer: 20021003 In: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie vol. 240 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens. [electronic resource] by Gillespie, Rachel L Lloyd, I Christopher Black, Graeme C M Producer: 20150330 In: Human heredity vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Atypical presentation of CRB1 retinopathy. [electronic resource] by Morarji, Jiten Lenassi, Eva Black, Graeme C M Ashworth, Jane L Producer: 20170119 In: Acta ophthalmologica vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. [electronic resource] by Hanson, Dan Murray, Philip G Black, Graeme C M Clayton, Peter E Producer: 20120416 In: Hormone research in paediatrics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Inherited eye disease: cause and late effect. [electronic resource] by Manson, Forbes D C Trump, Dorothy Read, Andrew P Black, Graeme C M Producer: 20060502 In: Trends in molecular medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2. [electronic resource] by Morarji, Jiten Gillespie, Rachel Sergouniotis, Panagiotis I Horvath, Rita Black, Graeme C M Publication details: JAMA ophthalmology Feb 2017 In: JAMA ophthalmology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Identifying biological pathways that underlie primordial short stature using network analysis. [electronic resource] by Hanson, Dan Stevens, Adam Murray, Philip G Black, Graeme C M Clayton, Peter E Producer: 20150110 In: Journal of molecular endocrinology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinical utility gene card for: choroideremia. [electronic resource] by Moosajee, Mariya Ramsden, Simon C Black, Graeme C M Seabra, Miguel C Webster, Andrew R Producer: 20141118 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method. [electronic resource] by Eden, Martin Payne, Katherine Combs, Ryan M Hall, Georgina McAllister, Marion Black, Graeme C M Producer: 20131017 In: The British journal of ophthalmology vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis. [electronic resource] by Kulkarni, Nainesha Lloyd, Ian C Ashworth, Jane Biswas, Susmito Black, Graeme C M Clayton-Smith, Jill Producer: 20200204 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. [electronic resource] by McCann, Emma Kaye, Stephen B Newman, William Norbury, Gail Black, Graeme C M Ellis, Ian H Producer: 20080227 In: American journal of medical genetics. Part A vol. 138A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Identification of genomic loci contributing to agenesis of the corpus callosum. [electronic resource] by O'Driscoll, Mary C Black, Graeme C M Clayton-Smith, Jill Sherr, Elliott H Dobyns, William B Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example. [electronic resource] by Davison, Niall Payne, Katherine Eden, Martin McAllister, Marion Roberts, Stephen A Ingram, Stuart Black, Graeme C M Hall, Georgina Producer: 20180504 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. [electronic resource] by Michaelides, Michel Urquhart, Jill Holder, Graham E Restori, Marie Kayali, Nuha Manson, Forbes D C Black, Graeme C M Producer: 20060228 In: American journal of ophthalmology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. [electronic resource] by McAlinden, Audrey Majava, Marja Bishop, Paul N Perveen, Rahat Black, Graeme C M Pierpont, Mary Ella Ala-Kokko, Leena Männikkö, Minna Producer: 20080206 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. [electronic resource] by Jun, Albert S Meng, Huan Ramanan, Naren Matthaei, Mario Chakravarti, Shukti Bonshek, Richard Black, Graeme C M Grebe, Rhonda Kimos, Martha Producer: 20120426 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. [electronic resource] by Porter, Louise F Urquhart, Jill E O'Donoghue, Eamonn Spencer, A Fiona Wade, Emma M Manson, Forbes D C Black, Graeme C M Producer: 20111202 In: Investigative ophthalmology & visual science vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. [electronic resource] by Molina-Ramírez, Leslie P Lenassi, Eva Ellingford, Jamie M Sergouniotis, Panagiotis I Ramsden, Simon C Bruce, Iain A Black, Graeme C M Producer: 20210414 In: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. [electronic resource] by Clayton, Peter E Hanson, Dan Magee, Lucia Murray, Philip G Saunders, Emma Abu-Amero, Sayeda N Moore, Gudrun E Black, Graeme C M Producer: 20130117 In: Clinical endocrinology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 84 results.