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Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Southern KW, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, Barben J, Bevan A, Brokaar E, Collins S, Connett GJ, Daniels TWV, Davies J, Declercq D, Gartner S, Gramegna A, Hamilton N, Hauser J, Kashirskaya N, Kessler L, Lowdon J, Makukh H, Martin C, Morrison L, Nazareth D, Noordhoek J, O'Neill C, Owen E, Oxley H, Raraigh KS, Raynal C, Robinson K, Roehmel J, Schwarz C, Sermet I, Shteinberg M, Sinha I, Takawira C, van Mourik P, Verkleij M, Waller MD, Duff A. Southern KW, et al. Among authors: makukh h. J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28. J Cyst Fibros. 2023. PMID: 36916675 Free article.
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M, Haiboniuk I, Solovei I, Shargorodska Y, Makukh H. Bondarenko M, et al. Among authors: makukh h. Balkan J Med Genet. 2023 May 2;25(2):83-90. doi: 10.2478/bjmg-2022-0018. eCollection 2023 May. Balkan J Med Genet. 2023. PMID: 37265969 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe.
Jung A, Orenti A, Dunlevy F, Aleksejeva E, Bakkeheim E, Bobrovnichy V, Carr SB, Colombo C, Corvol H, Cosgriff R, Daneau G, Dogru D, Drevinek P, Vukic AD, Fajac I, Fox A, Fustik S, Gulmans V, Harutyunyan S, Hatziagorou E, Kasmi I, Kayserová H, Kondratyeva E, Krivec U, Makukh H, Malakauskas K, McKone EF, Mei-Zahav M, de Monestrol I, Olesen HV, Padoan R, Parulava T, Pastor-Vivero MD, Pereira L, Petrova G, Pfleger A, Pop L, van Rens JG, Rodic M, Schlesser M, Storms V, Turcu O, Woz Niacki L, Yiallouros P, Zolin A, Downey DG, Naehrlich L. Jung A, et al. Among authors: makukh h. ERJ Open Res. 2021 Dec 27;7(4):00411-2021. doi: 10.1183/23120541.00411-2021. eCollection 2021 Oct. ERJ Open Res. 2021. PMID: 34984210 Free PMC article.
Correction to: Origins, admixture and founder lineages in European Roma.
Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D; Genographic Consortium. Martínez-Cruz B, et al. Among authors: makukh h. Eur J Hum Genet. 2022 Apr;30(4):490. doi: 10.1038/s41431-021-01020-7. Eur J Hum Genet. 2022. PMID: 34952928 Free PMC article. No abstract available.
32 results