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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: rossmann h. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: rossmann h. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
Open ADAMTS-13 conformation index predicts earlier relapse in immune-mediated thrombotic thrombocytopenic purpura.
De Waele L, Sakai K, Mancini I, Sinkovits G, Falter T, Inoue T, Agosti P, Rossmann H, Von Auer C, Tersteeg C, De Meyer SF, Joly BS, Veyradier A, Coppo P, Fijnheer R, Peyvandi F, Prohászka Z, Lämmle B, Vanhoorelbeke K. De Waele L, et al. Among authors: rossmann h. J Thromb Haemost. 2024 Feb;22(2):493-502. doi: 10.1016/j.jtha.2023.10.014. Epub 2023 Oct 20. J Thromb Haemost. 2024. PMID: 37866519
A novel von Willebrand factor multimer ratio as marker of disease activity in thrombotic thrombocytopenic purpura.
Falter T, Rossmann H, de Waele L, Dekimpe C, von Auer C, Müller-Calleja N, Häuser F, Degreif A, Marandiuc D, Messmer X, Sprinzl M, Lackner KJ, Jurk K, Vanhoorelbeke K, Lämmle B. Falter T, et al. Among authors: rossmann h. Blood Adv. 2023 Sep 12;7(17):5091-5102. doi: 10.1182/bloodadvances.2023010028. Blood Adv. 2023. PMID: 37399489 Free PMC article.
One fits all: a highly sensitive combined ddPCR/pyrosequencing system for the quantification of microchimerism after hematopoietic and solid organ transplantation.
Häuser F, Mittler J, Hantal MS, Greulich L, Hermanns M, Shrestha A, Kriege O, Falter T, Immel UD, Herold S, Schuch B, Lackner KJ, Rossmann H, Radsak M. Häuser F, et al. Among authors: rossmann h. Clin Chem Lab Med. 2023 May 11;61(11):1994-2001. doi: 10.1515/cclm-2023-0198. Print 2023 Oct 26. Clin Chem Lab Med. 2023. PMID: 37167203
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.
Adenaeuer A, Barco S, Trinchero A, Krutmann S, Nazir HF, Ambaglio C, Rocco V, Pancione Y, Tomao L, Ruiz-Sáez A, Echenagucia M, Alesci S, Sollfrank S, Ezigbo ED, Häuser F, Lackner KJ, Lämmle B, Rossmann H. Adenaeuer A, et al. Among authors: rossmann h. J Thromb Haemost. 2023 Feb;21(2):237-254. doi: 10.1016/j.jtha.2022.11.011. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36700498 Free article.
118 results