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International Journal of Endocrinology|February 17, 2015
Determinants of vitamin d levels in children and adolescents with down syndromeStefano Stagi, Elisabetta Lapi, Silvia Romano, et al.Molecular Genetics & Genomic Medicine|June 20, 2020
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutationEvelise Brizola, Maria Gnoli, Morena Tremosini, et al.European Journal of Ophthalmology|April 21, 2020
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-upAndrea Lembo, Giacomo Maria Bacci, Massimiliano Serafino, et al.Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|October 27, 2019
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM)Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, et al.Ophthalmic Genetics|March 3, 2020
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmosGiacomo Maria Bacci, Sara Bargiacchi, Pina Fortunato, et al.BMC Ophthalmology|February 26, 2017
Case report of an atypical early onset X-linked retinoschisis in monozygotic twinsVittoria Murro, Roberto Caputo, Giacomo Maria Bacci, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|March 15, 2016
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiencyAntonella Lonero, Maurizio Delvecchio, Paola Primignani, et al.European Journal of Medical Genetics|April 18, 2017
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 geneSara Bargiacchi, Matteo Della Monica, Roberto Biagiotti, et al.International Journal of Molecular Sciences|July 27, 2022
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, et al.Ophthalmic Genetics|April 9, 2024
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two casesElisa Marziali, Samuela Landini, Erika Fiorentini, et al.Pageof 3