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Journal of Pediatric Ophthalmology and Strabismus|July 9, 2019
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-upMustafa Safi, Salimeh Khazaei Nejad, Mary O'Hara, et al.
Annals of Paediatric Rheumatology|May 20, 2014
Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos SyndromeAllison Buterbaugh, Henry J Mroczkowski, Suma P Shankar, et al.
Eye & Contact Lens|November 19, 2020
Overview of Neurotrophic Keratopathy and a Stage-Based Approach to Its ManagementMustafa Safi, Jennifer Rose-Nussbaumer
Retinal Cases & Brief Reports|November 20, 2015
MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATIONJoshua D Levinson, Jiong Yan, Scott R Lambert, et al.
BMJ Case Reports|July 26, 2022
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosomeNattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndromeArunkanth Ankala, Nieraj Jain, Baker Hubbard, et al.
Ophthalmic Genetics|January 12, 2021
The evolving role of genetics in ophthalmologyNatario L Couser, Brian P Brooks, Arlene V Drack, et al.
SAGE Open Medical Case Reports|August 30, 2021
A 'never miss' diagnosis: Ptosis secondary to metastatic breast cancer diagnosed as involutional ptosis and a review of the literatureMustafa Safi, Katayun Fethat, Rona Z Silkiss
American Journal of Ophthalmology Case Reports|June 27, 2022
Retinal dystrophies: A look beyond the eyesVincent Duong Tang, Alena Egense, Glenn Yiu, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 16, 2010
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the probandPhoebe Lin, Suma P Shankar, Jacque Duncan, et al.
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