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118 results

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Page 1
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: bartuli a. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Carnitine in lactic acidosis.
Dionisi Vici C, Bertini E, Bartuli A, Sabetta G. Dionisi Vici C, et al. Among authors: bartuli a. J Pediatr. 1988 Apr;112(4):678. doi: 10.1016/s0022-3476(88)80202-6. J Pediatr. 1988. PMID: 3351698 No abstract available.
Atherogenic dyslipidemia and cardiovascular risk factors in obese children.
D'Adamo E, Guardamagna O, Chiarelli F, Bartuli A, Liccardo D, Ferrari F, Nobili V. D'Adamo E, et al. Among authors: bartuli a. Int J Endocrinol. 2015;2015:912047. doi: 10.1155/2015/912047. Epub 2015 Jan 12. Int J Endocrinol. 2015. PMID: 25663838 Free PMC article. Review.
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N. Ranieri C, et al. Among authors: bartuli a. Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16. Neurogenetics. 2018. PMID: 29549527 Free PMC article.
[Multidisciplinary approach].
Bartuli A, Bertini E, Callea F, Cappa M, Caviglia S, D'argenio P, De Benedetti F, Digilio MC, Dionisi Vici C, El Hachem M, Emma F, Nobili V, Pagnotta G, Vignati E. Bartuli A, et al. Minerva Pediatr. 2009 Dec;61(6):689-91. Minerva Pediatr. 2009. PMID: 19935526 Italian. No abstract available.
118 results