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Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.
Am J Hum Genet. 2013.
PMID: 23643385
Free PMC article.
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.
Tran-Viet KN, et al. Among authors: nading e.
Mol Vis. 2013 Apr 5;19:759-66. Print 2013.
Mol Vis. 2013.
PMID: 23592912
Free PMC article.
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CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL.
Lim SH, et al. Among authors: nading eb.
Am J Ophthalmol. 2013 Mar;155(3):508-517.e5. doi: 10.1016/j.ajo.2012.09.012. Epub 2012 Dec 4.
Am J Ophthalmol. 2013.
PMID: 23218701
Free PMC article.
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Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL.
Lim SH, et al. Among authors: nading eb.
Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26.
Ophthalmic Genet. 2014.
PMID: 23802135
Free PMC article.
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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS.
ElMallah MK, et al. Among authors: nading eb.
Pediatr Pulmonol. 2020 Mar;55(3):674-681. doi: 10.1002/ppul.24621. Epub 2020 Jan 3.
Pediatr Pulmonol. 2020.
PMID: 31899940
Free PMC article.
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The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, Högler W.
Farman MR, et al. Among authors: nading eb.
Bone. 2024 Jan;178:116947. doi: 10.1016/j.bone.2023.116947. Epub 2023 Oct 26.
Bone. 2024.
PMID: 37898381
Free article.
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