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Page 1
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: kohl s. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Postnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience.
Kohaut J, Fischer-Mertens J, Cernaianu G, Schulten D, Holtkamp G, Kohl S, Habbig S, Klein R, Kribs A, Gottschalk I, Berg C, Dübbers M. Kohaut J, et al. Among authors: kohl s. J Pediatr Urol. 2023 Oct;19(5):567.e1-567.e6. doi: 10.1016/j.jpurol.2023.06.027. Epub 2023 Jul 4. J Pediatr Urol. 2023. PMID: 37451915
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
Cideciyan AV, Roman AJ, Warner RL, Sumaroka A, Wu V, Jiang YY, Swider M, Garafalo AV, Viarbitskaya I, Russell RC, Kohl S, Wissinger B, Ripamonti C, Barbur JL, Bach M, Carroll J, Morgan JIW, Aleman TS. Cideciyan AV, et al. Among authors: kohl s. Int J Mol Sci. 2024 Oct 2;25(19):10639. doi: 10.3390/ijms251910639. Int J Mol Sci. 2024. PMID: 39408969 Free PMC article.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: kohl s. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39079892
718 results