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A prospective 10 year follow up study of patients with neurofibromatosis type 1.
Cnossen MH, de Goede-Bolder A, van den Broek KM, Waasdorp CM, Oranje AP, Stroink H, Simonsz HJ, van den Ouweland AM, Halley DJ, Niermeijer MF. Cnossen MH, et al. Among authors: simonsz hj. Arch Dis Child. 1998 May;78(5):408-12. doi: 10.1136/adc.78.5.408. Arch Dis Child. 1998. PMID: 9659085 Free PMC article.
Implementation of Newborn Hearing Screening in Albania.
Bussé AML, Qirjazi B, Mackey AR, Kik J, Goedegebure A, Hoeve HLJ, Toçi E, Roshi E, Carr G, Toll MS, Simonsz HJ. Bussé AML, et al. Among authors: simonsz hj. Int J Neonatal Screen. 2023 May 10;9(2):28. doi: 10.3390/ijns9020028. Int J Neonatal Screen. 2023. PMID: 37218893 Free PMC article.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. Peachey NS, et al. Among authors: simonsz hj. Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. Am J Hum Genet. 2012. PMID: 22325362 Free PMC article.
Phakomatosis pigmentovascularis.
Van Gysel D, Oranje AP, Stroink H, Simonsz HJ. Van Gysel D, et al. Among authors: simonsz hj. Pediatr Dermatol. 1996 Jan-Feb;13(1):33-5. doi: 10.1111/j.1525-1470.1996.tb01184.x. Pediatr Dermatol. 1996. PMID: 8919522 Free article.
157 results