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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15.
Hum Mutat. 2020.
PMID: 31562665
Free PMC article.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K.
Bariana TK, et al. Among authors: bioresource n.
Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.
Haematologica. 2019.
PMID: 30467204
Free PMC article.
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A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
Padmakumar M, Jaeken J, Ramaekers V, Lagae L, Greene D, Thys C, Van Geet C, BioResource N, Stirrups K, Downes K, Turro E, Freson K.
Padmakumar M, et al. Among authors: bioresource n.
JIMD Rep. 2019 Mar 25;47(1):9-16. doi: 10.1002/jmd2.12030. eCollection 2019 May.
JIMD Rep. 2019.
PMID: 31240161
Free PMC article.
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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA.
Bierzynska A, et al. Among authors: bioresource n.
Pediatr Nephrol. 2022 Nov;37(11):2643-2656. doi: 10.1007/s00467-022-05440-5. Epub 2022 Feb 24.
Pediatr Nephrol. 2022.
PMID: 35211795
Free PMC article.
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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC.
Poggi M, et al. Among authors: bioresource n.
Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23.
Haematologica. 2017.
PMID: 27663637
Free PMC article.
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan MV, Hayman MA, Sivapalaratnam S, Crescente M, Allan HE, Edin ML, Zeldin DC, Milne GL, Stephens J, Greene D, Hanif M, O'Donnell VB, Dong L, Malkowski MG, Lentaigne C, Wedderburn K, Stubbs M, Downes K, Ouwehand WH, Turro E, BioResource N, Hart DP, Freson K, Laffan MA, Warner TD.
Chan MV, et al. Among authors: bioresource n.
Haematologica. 2021 May 1;106(5):1423-1432. doi: 10.3324/haematol.2019.235895.
Haematologica. 2021.
PMID: 32299908
Free PMC article.
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Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease.
Selinger CP, Laube R, Steed H, Brookes M, BioResource N, Leong RWL.
Selinger CP, et al. Among authors: bioresource n.
Therap Adv Gastroenterol. 2023 Aug 30;16:17562848231193211. doi: 10.1177/17562848231193211. eCollection 2023.
Therap Adv Gastroenterol. 2023.
PMID: 37667806
Free PMC article.
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