المؤلفون: Kent W. Small, Jessica Avetisjan, Fadi S. Shaya

المصدر: American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101633- (2022)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993622003796; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/b02dfccddf524afca94a8461c3d5ef4f

المؤلفون: Kent W. Small, MD, Andrea L. Vincent, MBChB, MD, Chelsey L. Knapper, DO, Fadi S. Shaya, BS

المصدر: American Journal of Ophthalmology Case Reports, Vol 15, Iss , Pp - (2019)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993619301185; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/38cdb92a8584490eb293adcf8cf7636c

المؤلفون: Kent W. Small, Jessica Avetisjan, Fadi S. Shaya

المصدر: Journal of VitreoRetinal Diseases. 7:109-115

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::058c25586d974ff9a27b6e4cb13931f9
https://doi.org/10.1177/24741264221120490

المؤلفون: Kent W. Small, Caroline A. Tawfik, Nitin Udar, Uma Udar, Jessica Avetisjan, Lamia A. El-aidy, Fadi S. Shaya

المصدر: Retina. 42:2379-2387

مصطلحات موضوعية: Ophthalmology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e207d2167adc41e54d4461c1bdcd31d
https://doi.org/10.1097/iae.0000000000003611

المؤلفون: Kent W. Small, Robert Wiggins, Nitin Udar, Rosemary Silva-Garcia, Jessica Avetisjan, Andrea Vincent, Fadi S. Shaya

المصدر: Ophthalmology Retina. 6:512-519

مصطلحات موضوعية: Corneal Dystrophies, Hereditary, Vascular Endothelial Growth Factor A, Ophthalmology, Humans, Tomography, Optical Coherence, Follow-Up Studies, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bacc7bee9496d77ecb89d159050417d5
https://doi.org/10.1016/j.oret.2022.02.003

المؤلفون: Kent W. Small, Lee M. Jampol, Benjamin Bakall, Leslie Small, Robert Wiggins, Steven Agemy, Nitin Udar, Jessica Avetisjan, Andrea Vincent, Fadi S. Shaya

المصدر: Ophthalmic Genetics. 43:307-317

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3abebd25a447f12054174b72230c7b
https://doi.org/10.1080/13816810.2021.2010771

المؤلفون: Kent W. Small, Stijn Van de Sompele, Jessica Avetisjan, Nitin Udar, Steven Agemy, Elfride De Baere, Fadi S. Shaya

المصدر: JOURNAL OF VITREORETINAL DISEASES

مصطلحات موضوعية: GENES, NCMD, inherited retinal diseases, VARIANT, REARRANGEMENTS, mutational, PRDM13, single nucleotide variants, SV, CAROLINA MACULAR DYSTROPHY, PHENOTYPE, MCDR1, DUPLICATION, COPY-NUMBER, whole-genome sequencing, DNase I site, Medicine and Health Sciences, BIFOCAL CHORIORETINAL ATROPHY, copy number variant, chromosome 6, hotspot, North Carolina macular dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d800469665fa9512561f13909d4510da
https://hdl.handle.net/1854/LU-01GTHEVYCZYEWACGEMQGN894GE

المؤلفون: Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D’haene, Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J. F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J. van Schooneveld, José Luis Gómez-Skarmeta, Juan J. Tena, Juan R. Martinez-Morales, Petra Liskova, Kris Vleminckx, Elfride De Baere

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::79feee9e3f4666cf8b923858f2090fe3
https://doi.org/10.1101/2022.03.08.481329

المؤلفون: Kent W, Small, Stijn, Van de Sompele, Karen, Nuytemans, Andrea, Vincent, Ozge Ozalp, Yuregir, Emine, Ciloglu, Cahfer, Sariyildiz, Toon, Rosseel, Jessica, Avetisjan, Nitin, Udar, Jeffery M, Vance, Margaret A, Pericak-Vance, Elfride, De Baere, Fadi S, Shaya

المصدر: Molecular Vision

مصطلحات موضوعية: Adult, Corneal Dystrophies, Hereditary, Male, Adolescent, Turkey, Whole Genome Sequencing, Genetic Linkage, Histone-Lysine N-Methyltransferase, Polymerase Chain Reaction, eye diseases, Pedigree, Asian People, Child, Preschool, Gene Duplication, Humans, Chromosomes, Human, Pair 6, Female, Child, Tomography, Optical Coherence, Transcription Factors, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2f024cc3e6208702d724df1d0e787912
https://pubmed.ncbi.nlm.nih.gov/34526759

المؤلفون: Jennifer I. Lim, Adam R. Glassman, Lloyd Paul Aiello, Usha Chakravarthy, Christina J. Flaxel, Lawrence J. Singerman, Richard F. Spaide, Daniel B. Roth, Lloyd P. Aiello, Jorge G. Arroyo, Sophie J. Bakri, Charlie C. Barr, Caroline R. Baumal, Kevin J. Blinder, Nauman Chaudhry, Victor Chong, Albert O. Edwards, Allan Hunter, Michael J. Elman, Michel E. Farah, Gary Fish, Alfonso Giovannini, Frank G. Holz, Rahul N. Khurana, Gregg T. Kokame, H. Richard McDonald, Stephan Michels, Roger L. Gary Novack, Maurizio Battaglia Parodi, Carl D. Regillo, Kent W. Small, Fadi S. Shaya, Rickard F. Spaide, Giovani Staurenghi, Jennifer Sun, Demetrios Vavvas, Charles Wykoff, Lucy H.Y. Young

المساهمون: Lim, Ji, Glassman, Ar, Aiello, Lp, Chakravarthy, U, Flaxel, Cj, Singerman, Lj, Spaide, Rf, Roth, Db, on behalf of the Macula Society Ocriplasmin for Vitreomacular Traction Study, Group, Battaglia Parodi, M

المصدر: Ophthalmology. Retina. 1(5)

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, business.industry, Ocriplasmin, Retinal detachment, Retrospective cohort study, medicine.disease, Vitreomacular adhesion, eye diseases, Retinal Tear, 03 medical and health sciences, Ophthalmology, chemistry.chemical_compound, 0302 clinical medicine, Endophthalmitis, chemistry, Macular retinal pigment epithelium atrophy, 030221 ophthalmology & optometry, medicine, sense organs, 030212 general & internal medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::611f60e491cfcf4bab5cefe45c57219c
https://pubmed.ncbi.nlm.nih.gov/31047572