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89 results
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Identification of novel candidate disease genes from de novo exonic copy number variants.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Gambin T, et al. Among authors: golla s. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. Genome Med. 2017. PMID: 28934986 Free PMC article.
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. Dharmadhikari AV, et al. Among authors: golla s. BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z. BMC Med Genet. 2014. PMID: 25472632 Free PMC article.
Kinetics and 28-day test-retest repeatability and reproducibility of [11C]UCB-J PET brain imaging.
Tuncel H, Boellaard R, Coomans EM, de Vries EF, Glaudemans AW, Feltes PK, García DV, Verfaillie SC, Wolters EE, Sweeney SP, Ryan JM, Ivarsson M, Lynch BA, Schober P, Scheltens P, Schuit RC, Windhorst AD, De Deyn PP, van Berckel BN, Golla SS. Tuncel H, et al. Among authors: golla ss. J Cereb Blood Flow Metab. 2021 Jun;41(6):1338-1350. doi: 10.1177/0271678X20964248. Epub 2020 Oct 8. J Cereb Blood Flow Metab. 2021. PMID: 34013797 Free PMC article.
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