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Search Results - Porter, Graeme F
Search Results - Porter, Graeme F
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Catch Me if You Can
by
Kasargod, Chethan
,
Barker, Barbara
,
Bayles, Michelle
,
Porter, Graeme F
Published in
Heart, lung & circulation
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
by
Conte, Ivan
,
Kristen D. Hadfield
,
Sara Barbato
,
Sabrina Carrella
,
Mariateresa Pizzo
,
Rajeshwari S. Bhat
,
Annamaria Carissimo
,
Marianthi Karali
,
Louise F. Porter
,
Jill Urquhart
,
Sofie Hateley
,
James OâSullivan
,
Forbes D. C. Manson
,
Stephan C. F. Neuhauss
,
Sandro Banfi
,
Graeme C. M. Black
Published in
Proceedings of the National Academy of Sciences - PNAS
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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
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
Published in
Molecular genetics and metabolism
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Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
by
Lechner, Judith
,
Porter, Louise F
,
Rice, Aine
,
Vitart, Veronique
,
Armstrong, David J
,
Schorderet, Daniel F
,
Munier, Francis L
,
Wright, Alan F
,
Inglehearn, Chris F
,
Black, Graeme C
,
Simpson, David A
,
Manson, Forbes
,
Willoughby, Colin E
Published in
Human molecular genetics
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Brittle cornea syndrome: recognition, molecular diagnosis and management
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
Published in
Orphanet journal of rare diseases
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A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome
by
Porter, Louise F
,
Galli, Giorgio G
,
Williamson, Sally
,
Selley, Julian
,
Knight, David
,
Elcioglu, Nursel
,
Aydin, Ali
,
Elcioglu, Mustafa
,
Venselaar, Hanka
,
Lund, Anders H
,
Bonshek, Richard
,
Black, Graeme C
,
Manson, Forbes D
Published in
Human molecular genetics
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Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome
by
Porter, Louise F
,
Gallego-Pinazo, Roberto
,
Keeling, Catherine L
,
Kamieniorz, Martyna
,
Zoppi, Nicoletta
,
Colombi, Marina
,
Giunta, Cecilia
,
Bonshek, Richard
,
Manson, Forbes D
,
Black, Graeme C
Published in
Orphanet journal of rare diseases
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The Relationship Between Circulating Acetaminophen-Protein Adduct Concentrations and Alanine Aminotransferase Activities in Patients With and Without Acetaminophen Overdose and Tox...
by
Curry, Steven C.
,
Padilla-Jones, Angela
,
Ruha, Anne-Michelle
,
O’Connor, Ayrn D.
,
Kang, A Min
,
Wilkins, Diana G.
,
Jaeschke, Hartmut
,
Wilhelms, Kelly
,
Gerkin, Richard D.
Published in
Journal of medical toxicology
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Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
by
Porter, Louise F
,
Urquhart, Jill E
,
O'Donoghue, Eamonn
,
Spencer, A Fiona
,
Wade, Emma M
,
Manson, Forbes D C
,
Black, Graeme C M
Published in
Investigative ophthalmology & visual science
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