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Year Number of Results
2009 2
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2011 1
2013 2
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2018 3
2019 3
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2021 5
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2024 1

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28 results

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Page 1
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L, Jimenez-Heredia R, Zeitlhofer P, Novak W, Eder SK, Segarra-Roca A, Frohne A, Nebral K, Haimel M, Geyeregger R, Roetzer-Londgin K, Haas OA, Boztug K. Kager L, et al. Among authors: haimel m. Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434532 Free PMC article. No abstract available.
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W, Legger G, Kul Cinar O, van Daele P, Gattorno M, Bader-Meunier B, Wouters C, Briggs T, Johansson L, van der Velde J, Swertz M, Omoyinmi E, Hoppenreijs E, Belot A, Eleftheriou D, Caorsi R, Aeschlimann F, Boursier G, Brogan P, Haimel M, van Gijn M. Maassen W, et al. Among authors: haimel m. Front Immunol. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869. eCollection 2023. Front Immunol. 2023. PMID: 37781402 Free PMC article.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
Surucu Yilmaz N, Bilgic Eltan S, Kayaoglu B, Geckin B, Heredia RJ, Sefer AP, Kiykim A, Nain E, Kasap N, Dogru O, Yucelten AD, Cinel L, Karasu G, Yesilipek A, Sozeri B, Kaya GG, Yilmaz IC, Baydemir I, Aydin Y, Cansen Kahraman D, Haimel M, Boztug K, Karakoc-Aydiner E, Gursel I, Ozen A, Baris S, Gursel M. Surucu Yilmaz N, et al. Among authors: haimel m. J Clin Immunol. 2022 Apr;42(3):582-596. doi: 10.1007/s10875-021-01176-3. Epub 2022 Jan 14. J Clin Immunol. 2022. PMID: 35028801
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: haimel m. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Thrombomodulin in patients with mild to moderate bleeding tendency.
Mehic D, Tolios A, Hofer S, Ay C, Haslacher H, Downes K, Haimel M, Pabinger I, Gebhart J. Mehic D, et al. Among authors: haimel m. Haemophilia. 2021 Nov;27(6):1028-1036. doi: 10.1111/hae.14433. Epub 2021 Oct 10. Haemophilia. 2021. PMID: 34628704 Free PMC article.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: haimel m. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: haimel m. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
28 results