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Author/Creator Hejtmancik, J Fielding

1. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. (18th September 2017)

Authors:
Biswas, Pooja; Duncan, Jacque L; Ali, Muhammad; Matsui, Hiroko; Naeem, Muhammad Asif; Raghavendra, Pongali B; Frazer, Kelly A; Arts, Heleen H; Riazuddin, Sheikh; Akram, Javed; Hejtmancik, J Fielding; Riazuddin, S Amer; Ayyagari, Radha
Journal:
Human molecular genetics
Issue:
Volume 26:Number 23(2017:Dec. 01)
Page Start:
4741
Record Type:
Journal Article
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3. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Issue 10 (16th April 2015)

Authors:
Chassine, Thomas; Bocquet, Béatrice; Daien, Vincent; Avila-Fernandez, Almudena; Ayuso, Carmen; Collin, Rob WJ; Corton, Marta; Hejtmancik, J Fielding; van den Born, L Ingeborgh; Klevering, B Jeroen; Riazuddin, S Amer; Sendon, Nathacha; Lacroux, Annie; Meunier, Isabelle; Hamel, Christian P
Journal:
British journal of ophthalmology
Issue:
Volume 99:Issue 10(2015)
Page Start:
1360
Record Type:
Journal Article
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5. Differentiation State-Specific Mitochondrial Dynamic Regulatory Networks Are Revealed by Global Transcriptional Analysis of the Developing Chicken Lens. Issue 8 (1st August 2014)

Authors:
Chauss, Daniel; Basu, Subhasree; Rajakaruna, Suren; Ma, Zhiwei; Gau, Victoria; Anastas, Sara; Brennan, Lisa A; Hejtmancik, J Fielding; Menko, A Sue; Kantorow, Marc
Journal:
G3
Issue:
Volume 4:Issue 8(2014)
Page Start:
1515
Record Type:
Journal Article
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6. Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Issue 7 (28th March 2011)

Authors:
Naz, Shagufta; Ali, Shahbaz; Riazuddin, S Amer; Farooq, Tahir; Butt, Nadeem H; Zafar, Ahmad U; Khan, Shaheen N; Husnain, Tayyab; MacDonald, Ian M; Sieving, Paul A; Hejtmancik, J Fielding; Riazuddin, Sheikh
Journal:
British journal of ophthalmology
Issue:
Volume 95:Issue 7(2011)
Page Start:
1019
Record Type:
Journal Article
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7. Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Issue 8 (10th June 2010)

Authors:
Shahzadi, Amber; Riazuddin, S Amer; Ali, Shahbaz; Li, David; Khan, Shaheen N; Husnain, Tayyab; Akram, Javed; Sieving, Paul A; Hejtmancik, J Fielding; Riazuddin, Sheikh
Journal:
British journal of ophthalmology
Issue:
Volume 94:Issue 8(2010)
Page Start:
1094
Record Type:
Journal Article
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