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	21.	Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). [electronic resource] by Ramsden, Simon C Davidson, Alice E Leroy, Bart P Moore, Anthony T Webster, Andrew R Black, Graeme C M Manson, Forbes D C Producer: 20120910 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)
	22.	A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. [electronic resource] by Boutboul, Sandrine Black, Graeme C M Moore, John E Sinton, Janet Menasche, Maurice Munier, Francis L Laroche, Laurent Abitbol, Marc Schorderet, Daniel F Producer: 20060626 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Understanding the expectations of patients with inherited retinal dystrophies. [electronic resource] by Combs, Ryan Hall, Georgina Payne, Katherine Lowndes, Jo Devery, Sophie Downes, Susan M Moore, Anthony T Ramsden, Simon Black, Graeme C M McAllister, Marion 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)
	24.	Breast cancer susceptibility variants alter risks in familial disease. [electronic resource] by Latif, Ayse Hadfield, Kristen D Roberts, Stephen A Shenton, Andrew Lalloo, Fiona Black, Graeme C M Howell, Anthony Evans, D Gareth Newman, William G Producer: 20100506 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	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)
	26.	A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. [electronic resource] by Cilliers, Deirdre D Parveen, Rahat Clayton, Peter Cairns, Stephen A Clarke, Sheila Shalet, Stephen M Black, Graeme C M Newman, William G Clayton-Smith, Jill Producer: 20070720 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. [electronic resource] by Edwards, Thomas L Burt, Benjamin O Black, Graeme C M Perveen, Rahat Kearns, Lisa S Staffieri, Sandra E Toomes, Carmel Buttery, Robert G Mackey, David A Producer: 20121030 In: Clinical & experimental ophthalmology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. [electronic resource] by Davidson, Alice E Millar, Ian D Burgess-Mullan, Rosemary Maher, Geoffrey J Urquhart, Jill E Brown, Peter D Black, Graeme C M Manson, Forbes D C Producer: 20110819 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)
	29.	A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. [electronic resource] by Lyon, Mary F Jamieson, Robyn V Perveen, Rahat Glenister, Peter H Griffiths, Robert Boyd, Yvonne Glimcher, Laurie H Favor, Jack Munier, Francis L Black, Graeme C M Producer: 20031112 In: Human molecular genetics vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	30.	Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. [electronic resource] by Jamieson, Robyn V Perveen, Rahat Kerr, Bronwyn Carette, Martin Yardley, Jill Heon, Elise Wirth, M Gabriela van Heyningen, Veronica Donnai, Di Munier, Francis Black, Graeme C M Producer: 20020319 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. [electronic resource] by Davidson, Alice E Sergouniotis, Panagiotis I Burgess-Mullan, Rosemary Hart-Holden, Nichola Low, Sancy Foster, Paul J Manson, Forbes D C Black, Graeme C M Webster, Andrew R Producer: 20110208 In: Molecular vision vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	32.	Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. [electronic resource] by Black, Graeme C M Mazerolle, Chantal J Wang, Yaping Campsall, Katrina D Petrin, Dino Leonard, Brian C Damji, Karim F Evans, D Gareth McLeod, David Wallace, Valerie A Producer: 20040923 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar. [electronic resource] by Sallah, Shalaw R Sergouniotis, Panagiotis I Barton, Stephanie Ramsden, Simon Taylor, Rachel L Safadi, Amro Kabir, Mitra Ellingford, Jamie M Lench, Nick Lovell, Simon C Black, Graeme C M Producer: 20210602 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract. [electronic resource] by Gillespie, Rachel L Urquhart, Jill Anderson, Beverley Williams, Simon Waller, Sarah Ashworth, Jane Biswas, Susmito Jones, Simon Stewart, Fiona Lloyd, I Christopher Clayton-Smith, Jill Black, Graeme C M Producer: 20160426 In: Ophthalmology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. [electronic resource] by Hilton, Emma N Manson, Forbes D C Urquhart, Jill E Johnston, Jennifer J Slavotinek, Anne M Hedera, Peter Stattin, Eva-Lena Nordgren, Ann Biesecker, Leslie G Black, Graeme C M Producer: 20070914 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. [electronic resource] by Newman, William G Clayton-Smith, Jill Metcalfe, Kay Cole, Rachel Tartaglia, Marco Brancati, Francesco Morara, Sara Novelli, Antonio Liu, Xiangdong Siminovitch, Katherine A Mundlos, Stefan Tassabehji, May Black, Graeme C M Producer: 20081212 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. [electronic resource] by Hull, Sarah Arno, Gavin Plagnol, Vincent Chamney, Sarah Russell-Eggitt, Isabelle Thompson, Dorothy Ramsden, Simon C Black, Graeme C M Robson, Anthony G Holder, Graham E Moore, Anthony T Webster, Andrew R Producer: 20141222 In: Investigative ophthalmology & visual science vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	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)
	39.	Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. [electronic resource] by Ellingford, Jamie M Sergouniotis, Panagiotis I Lennon, Rachel Bhaskar, Sanjeev Williams, Simon G Hillman, Kate A O'Sullivan, James Hall, Georgina Ramsden, Simon C Lloyd, I Christopher Woolf, Adrian S Black, Graeme C M Producer: 20150609 In: Lancet (London, England) vol. 385 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. [electronic resource] by Hanson, Dan Murray, Philip G Sud, Amit Temtamy, Samia A Aglan, Mona Superti-Furga, Andrea Holder, Sue E Urquhart, Jill Hilton, Emma Manson, Forbes D C Scambler, Peter Black, Graeme C M Clayton, Peter E Producer: 20090702 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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