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Year Number of Results
1975 1
2005 2
2006 2
2008 2
2009 2
2011 1
2015 1
2018 1
2021 4
2022 8
2023 7
2024 0

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27 results

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Page 1
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: aliu e. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: aliu e. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Amino acid disorders.
Aliu E, Kanungo S, Arnold GL. Aliu E, et al. Ann Transl Med. 2018 Dec;6(24):471. doi: 10.21037/atm.2018.12.12. Ann Transl Med. 2018. PMID: 30740402 Free PMC article. Review.
Septo-optic dysplasia in an infant.
Aliu E, Musa J, Parisapogu A, Kola E, Hyseni F, Kola I, Blandón AO, Roy P, Prathima K, Banavath CN, Kumbha P, Tappa SM, Saini J, Pichuthirumalai S, Ahmetgjekaj I. Aliu E, et al. Radiol Case Rep. 2022 Jun 26;17(9):3147-3150. doi: 10.1016/j.radcr.2022.06.002. eCollection 2022 Sep. Radiol Case Rep. 2022. PMID: 35801123 Free PMC article.
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Basu S, Aliu E, Shi H, Kochersberger C, Karunanidhi A, Van't Land C, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, DeAntonis C, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Among authors: aliu e. Hum Mol Genet. 2023 Jul 4;32(14):2347-2356. doi: 10.1093/hmg/ddad076. Hum Mol Genet. 2023. PMID: 37162351 Free PMC article.
Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation.
Hartley M, Sinha A, Kumar A, Aliu E, Mainali G, Paudel S. Hartley M, et al. Among authors: aliu e. Child Neurol Open. 2021 Jul 29;8:2329048X211030751. doi: 10.1177/2329048X211030751. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34377735 Free PMC article.
The Importance of Magnetic Resonance in Detection of Cortical Dysplasia.
Hyseni F, Ahmetgjekaj I, Vokshi V, Mamillo K, Biba V, Shaipi B, Brati M, Dedushi K, Shatri J, Aliu E, Guy A, Salihaj K, Berisha R, Musa J. Hyseni F, et al. Among authors: aliu e. Curr Health Sci J. 2021 Oct-Dec;47(4):585-589. doi: 10.12865/CHSJ.47.04.16. Epub 2021 Dec 31. Curr Health Sci J. 2021. PMID: 35444831 Free PMC article.
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.
Mittal R, Kumar A, Ladda R, Mainali G, Aliu E. Mittal R, et al. Among authors: aliu e. Child Neurol Open. 2021 Nov 10;8:2329048X211055330. doi: 10.1177/2329048X211055330. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34778490 Free PMC article.
27 results