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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: grasemann c. 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.
Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wödl S, Bertrand M, Haack TB, Grasemann C, Manka E, Depienne C, Kaiser FJ. Grosse M, et al. Among authors: grasemann c. Int J Mol Sci. 2023 Feb 9;24(4):3519. doi: 10.3390/ijms24043519. Int J Mol Sci. 2023. PMID: 36834931 Free PMC article.
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tüscher O, Bârlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graeßner H, Gündel H, Heuft G, Lücke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. Hebestreit H, et al. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 37855024 Free PMC article.
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients with X-Linked Hypophosphatemia.
Ali DS, Mirza RD, Hussein S, Alsarraf F, Alexander RT, Abu Alrob H, Appelman-Dijkstra NM, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel EA, Jan de Beur SM, Morgante E, Ward LM, Khan AA, Guyatt G. Ali DS, et al. Among authors: grasemann c. J Clin Endocrinol Metab. 2025 Jan 9:dgaf011. doi: 10.1210/clinem/dgaf011. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39787354
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients with X-Linked Hypophosphatemia.
Ali DS, Mirza RD, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra NM, Beck-Nielsen SS, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Cohen-Solal M, Crowley RK, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel EA, Jan de Beur SM, Lehman A, Lewiecki EM, Morgante E, Ward LM, Khan AA, Guyatt G. Ali DS, et al. Among authors: grasemann c. J Clin Endocrinol Metab. 2024 Dec 23:dgae890. doi: 10.1210/clinem/dgae890. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39715351
70 results