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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: felix tm. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. Balestrini S, et al. Among authors: felix tm. Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281533 Free PMC article.
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
de Wallau MB, Xavier AC, Moreno CA, Kim CA, Mendes EL, Ribeiro EM, Oliveira A, Félix TM, Fett-Conte AC, Bonadia LC, Correia-Costa GR, Monlleó IL, Gil-da-Silva-Lopes VL, Vieira TP. de Wallau MB, et al. Among authors: felix tm. Genes (Basel). 2024 Apr 21;15(4):518. doi: 10.3390/genes15040518. Genes (Basel). 2024. PMID: 38674452 Free PMC article.
The Minimum Data Set for Rare Diseases: Systematic Review.
Bernardi FA, Mello de Oliveira B, Bettiol Yamada D, Artifon M, Schmidt AM, Machado Scheibe V, Alves D, Félix TM. Bernardi FA, et al. Among authors: felix tm. J Med Internet Res. 2023 Jul 27;25:e44641. doi: 10.2196/44641. J Med Internet Res. 2023. PMID: 37498666 Free PMC article. Review.
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
Spineli-Silva S, Monlleó IL, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Among authors: felix tm. Cleft Palate Craniofac J. 2023 May 14:10556656231174435. doi: 10.1177/10556656231174435. Online ahead of print. Cleft Palate Craniofac J. 2023. PMID: 37183441
97 results