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Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: maddalena a. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Roos D, et al. Among authors: maddalena a. Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Blood Cells Mol Dis. 2010. PMID: 20167518 Free PMC article. Review.
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Roos D, et al. Among authors: maddalena a. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J. Gentsch M, et al. Among authors: maddalena a. Hum Mutat. 2010 Feb;31(2):151-8. doi: 10.1002/humu.21156. Hum Mutat. 2010. PMID: 19953534 Free article.
Misgendering a transgender woman using FORDISC 3.1: A case study.
Flaherty TM, Byrnes JF, Maddalena A. Flaherty TM, et al. Among authors: maddalena a. Forensic Sci Int Synerg. 2023 Jun 18;7:100342. doi: 10.1016/j.fsisyn.2023.100342. eCollection 2023. Forensic Sci Int Synerg. 2023. PMID: 37415608 Free PMC article.
Scintillation light detection in the 6-m drift-length ProtoDUNE Dual Phase liquid argon TPC.
Abud AA, Abi B, Acciarri R, Acero MA, Adames MR, Adamov G, Adamowski M, Adams D, Adinolfi M, Aduszkiewicz A, Aguilar J, Ahmad Z, Ahmed J, Aimard B, Ali-Mohammadzadeh B, Alion T, Allison K, Monsalve SA, AlRashed M, Alt C, Alton A, Alvarez R, Amedo P, Anderson J, Andreopoulos C, Andreotti M, Andrews M, Andrianala F, Andringa S, Anfimov N, Ankowski A, Antoniassi M, Antonova M, Antoshkin A, Antusch S, Aranda-Fernandez A, Arellano L, Arnold LO, Arroyave MA, Asaadi J, Asquith L, Aurisano A, Aushev V, Autiero D, Lara VA, Ayala-Torres M, Azfar F, Back A, Back H, Back JJ, Backhouse C, Bagaturia I, Bagby L, Balashov N, Balasubramanian S, Baldi P, Baller B, Bambah B, Barao F, Barenboim G, Alzas PB, Barker G, Barkhouse W, Barnes C, Barr G, Monarca JB, Barros A, Barros N, Barrow JL, Basharina-Freshville A, Bashyal A, Basque V, Batchelor C, Chagas EBD, Battat JBR, Battisti F, Bay F, Bazetto MCQ, Alba JLLB, Beacom JF, Bechetoille E, Behera B, Beigbeder C, Bellantoni L, Bellettini G, Bellini V, Beltramello O, Benekos N, Montiel CB, Neves FB, Berger J, Berkman S, Bernardini P, Berner RM, Bersani A, Bertolucci S, Betancourt M, Rodríguez AB, Bevan A, Bezawada Y, Bezerra TJC, Bhardwaj A, Bhatnagar V,… See abstract for full author list ➔ Abud AA, et al. Among authors: maddalena a. Eur Phys J C Part Fields. 2022;82(7):618. doi: 10.1140/epjc/s10052-022-10549-w. Epub 2022 Jul 16. Eur Phys J C Part Fields. 2022. PMID: 35859696 Free PMC article.
82 results