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239 results

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Page 1
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: sivalingam s. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
Reply by Authors.
Fedrigon D, Faris A, Kachroo N, Jain R, Elia M, Wilkins L, Li J, De S, Noble M, Monga M, Sivalingam S. Fedrigon D, et al. Among authors: sivalingam s. J Urol. 2021 Aug;206(2):381. doi: 10.1097/JU.0000000000001772.03. Epub 2021 May 13. J Urol. 2021. PMID: 33983827 No abstract available.
Circumflex aorta: An uncharted territory.
Haranal M, Srimurugan B, Sivalingam S. Haranal M, et al. Among authors: sivalingam s. Asian Cardiovasc Thorac Ann. 2022 Feb;30(2):217-225. doi: 10.1177/02184923211015092. Epub 2021 May 6. Asian Cardiovasc Thorac Ann. 2022. PMID: 33957784 Review.
EDITORIAL COMMENT.
Sivalingam S. Sivalingam S. Urology. 2019 Nov;133:64. doi: 10.1016/j.urology.2019.05.058. Urology. 2019. PMID: 31706426 No abstract available.
Berry syndrome-a rare congenital cardiac anomaly.
Haranal M, Srimurugan B, Dinh DM, Sivalingam S. Haranal M, et al. Among authors: sivalingam s. Indian J Thorac Cardiovasc Surg. 2021 Sep;37(5):526-532. doi: 10.1007/s12055-021-01206-0. Epub 2021 Jun 8. Indian J Thorac Cardiovasc Surg. 2021. PMID: 34511759 Free PMC article. Review.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: sivalingam s. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Reply by Authors.
Kachroo N, Fedrigon D, Li J, Sivalingam S. Kachroo N, et al. Among authors: sivalingam s. J Urol. 2020 Oct;204(4):767-768. doi: 10.1097/JU.0000000000001090.03. Epub 2020 Jul 27. J Urol. 2020. PMID: 32716233 No abstract available.
239 results