Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease by Payne, Felicity, Lim, Koini, Girousse, Amandine, Brown, Rebecca J., Kory, Nora, Robbins, Ann, Xue, Yali, Sleigh, Alison, Cochran, Elaine, Adams, Claire, Borman, Arundhati Dev, Russel-Jones, David, Gorden, Phillip, Semple, Robert K., Saudek, Vladimir, O'Rahilly, Stephen, Walther, Tobias C., Barroso, Inês, Savage, David B.

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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease by Howard, Caoimhe, Dev‐Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma

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Nutritional blindness from avoidant-restrictive food intake disorder – recommendations for the early diagnosis and multidisciplinary management of children at risk from restrictive... by Schimansky, Sarah, Jasim, Haneen, Pope, Lucy, Hinds, Philippa, Fernandez, Daphin, Choleva, Paraskevi, Dev Borman, Arundhati, Sharples, Peta M, Smallbone, Todd, Atan, Denize

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Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study by Dev Borman, Arundhati, Ocaka, Louise A, Mackay, Donna S, Ripamonti, Caterina, Henderson, Robert H, Moradi, Phillip, Hall, Georgina, Black, Graeme C, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Fitzke, Fred, Stockman, Andrew, Moore, Anthony T

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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy by Tan, Mei Hong, Mackay, Donna S, Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J, Wright, Genevieve A, Dev-Borman, Arundhati, Henderson, Robert H, Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E, Robson, Anthony G, Cheetham, Michael E, Thompson, Dorothy A, Webster, Andrew R, Michaelides, Michel, Ali, Robin R, Moore, Anthony T

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RDH12 retinopathy: novel mutations and phenotypic description by Mackay, Donna S, Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H, Li, Zheng, Wright, Genevieve A, Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A, Bhattacharya, Shomi S, Holder, Graham E, Webster, Andrew R, Moore, Anthony T

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Renal cell carcinoma with an unusual presentation by West, Hilary, Wilson, Noel, Shrotri, Nitin, Dev Borman, Arundhati, Mukherjee, Arijit

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Approach to conjunctivitis in newborns by Manasseh, Gemma Susan Louise, Amarakoon, Sajeevika, Photiou, Victoria, Arruti, Natalia, Borman, Arundhati Dev

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Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1 by Arno, Gavin, Hull, Sarah, Carss, Keren, Dev-Borman, Arundhati, Chakarova, Christina, Bujakowska, Kinga, van den Born, L Ingeborgh, Robson, Anthony G, Holder, Graham E, Michaelides, Michel, Cremers, Frans P M, Pierce, Eric, Raymond, F Lucy, Moore, Anthony T, Webster, Andrew R

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Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations by Mackay, Donna S, Ocaka, Louise A, Borman, Arundhati Dev, Sergouniotis, Panagiotis I, Henderson, Robert H, Moradi, Phillip, Robson, Anthony G, Thompson, Dorothy A, Webster, Andrew R, Moore, Anthony T

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A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls by Sergouniotis, Panagiotis I, Li, Zheng, Mackay, Donna S, Wright, Genevieve A, Borman, Arundhati Dev, Devery, Sophie R, Moore, Anthony T, Webster, Andrew R

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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease by Howard, Caoimhe, Dev-Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma

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