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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1997 1
2002 8
2003 8
2004 9
2005 6
2006 3
2007 5
2008 3
2009 4
2010 8
2011 5
2012 12
2013 11
2014 3
2015 6
2016 4
2017 4
2018 2
2019 6
2020 9
2021 9
2022 5
2023 4
2024 0

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121 results

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Page 1
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Kiss S, Christodoulou J, Thorburn DR, Freeman JL, Kornberg AJ, Mandelstam S, Compton AG, Cummings B, Pais L, Yaplito-Lee J, White SM. Kiss S, et al. Among authors: freeman jl. Am J Med Genet A. 2023 Jun;191(6):1599-1606. doi: 10.1002/ajmg.a.63170. Epub 2023 Mar 9. Am J Med Genet A. 2023. PMID: 36896486
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: freeman jl. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS. Green TE, et al. Among authors: freeman jl. Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366. Hum Mol Genet. 2022. PMID: 35137044 Free PMC article.
Feasibility and Safety of Outpatient Thyroidectomy: A Narrative Scoping Review.
Philteos J, Baran E, Noel CW, Pasternak JD, Higgins KM, Freeman JL, Chiodo A, Eskander A. Philteos J, et al. Among authors: freeman jl. Front Endocrinol (Lausanne). 2021 Jul 28;12:717427. doi: 10.3389/fendo.2021.717427. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34394008 Free PMC article. Review.
An unexpected disease course for a patient with diffuse midline glioma.
Malalasekera VS, D'Arcy CE, Mignone C, Wray AC, Nazarian J, Freeman JL, Hansford JR. Malalasekera VS, et al. Among authors: freeman jl. Pediatr Blood Cancer. 2021 Oct;68(10):e29205. doi: 10.1002/pbc.29205. Epub 2021 Jul 10. Pediatr Blood Cancer. 2021. PMID: 34245217 No abstract available.
121 results