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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: baglaj m. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.
Epidermoid cyst in a wandering spleen.
Baglaj M, Czernik J. Baglaj M, et al. Pediatr Surg Int. 1998 Nov;14(1-2):113-5. doi: 10.1007/s003830050454. Pediatr Surg Int. 1998. PMID: 9880716
What Should Be the Topics of a Prospective Study on Ovarian Masses in Children?-Results of a Multicenter Retrospective Study and a Scoping Literature Review.
Łuczak J, Bagłaj M, Dryjański P, Kalcowska A, Banaszyk-Pucała N, Boczar M, Dymek K, Fryczek M, Giżewska-Kacprzak K, Górecki W, Grabowski A, Gregor A, Jabłońska M, Kowalewski G, Lewandowska M, Małowiecka M, Ogorzałek A, Pękalska M, Piotrowska-Gall A, Porębski M, Siewiński M, Patkowski D. Łuczak J, et al. Among authors: baglaj m. Curr Oncol. 2022 Feb 28;29(3):1488-1500. doi: 10.3390/curroncol29030125. Curr Oncol. 2022. PMID: 35323325 Free PMC article.
44 results