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Ophthalmic abnormalities in Wieacker-Wolff syndrome.
Comlekoglu T, Kumar V, King K, Al Saif H, Li R, Couser N. Comlekoglu T, et al. Among authors: al saif h. J AAPOS. 2022 Apr;26(2):91-93. doi: 10.1016/j.jaapos.2021.10.010. Epub 2022 Feb 1. J AAPOS. 2022. PMID: 35121145
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL. Saadeh-Jackson S, et al. Among authors: al saif h. J Pediatr Ophthalmol Strabismus. 2021 Nov-Dec;58(6):e44-e48. doi: 10.3928/01913913-20210826-01. Epub 2021 Nov 1. J Pediatr Ophthalmol Strabismus. 2021. PMID: 34851787
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison… See abstract for full author list ➔ Johnson JO, et al. Among authors: al saif h, al chalabi a, al khleifat a. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
66 results