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

Year Number of Results
1965 3
1989 1
1990 1
1991 2
1992 2
1994 4
1995 4
1996 5
1997 3
1998 2
2000 1
2001 3
2002 2
2003 3
2004 6
2005 10
2006 4
2007 4
2008 7
2009 9
2010 5
2011 13
2012 14
2013 8
2014 12
2015 18
2016 7
2017 5
2018 10
2019 12
2020 4
2021 5
2022 6
2023 3
2024 4
2025 1

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188 results

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Page 1
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: summar m. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S; Urea Cycle Disorders Consortium; Lichtarge O, Rubio V, Wong LJ, Summar M. Häberle J, et al. Among authors: summar m. Hum Mutat. 2011 Jun;32(6):579-89. doi: 10.1002/humu.21406. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21120950 Free PMC article.
Mind the gap.
Summar M, Kirmse B, Monaco J. Summar M, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):1. doi: 10.1016/j.ymgme.2014.08.005. Mol Genet Metab. 2014. PMID: 25261244 No abstract available.
Save the biochemical geneticists!
Summar M. Summar M. Mol Genet Metab. 2014 Sep-Oct;113(1-2):2-3. doi: 10.1016/j.ymgme.2014.09.006. Mol Genet Metab. 2014. PMID: 25261245 No abstract available.
Glutathione peroxidase 3 is a potential biomarker for konzo.
Bramble MS, Fourcassié V, Vashist N, Roux-Dalvai F, Zhou Y, Bumoko G, Kasendue ML, Spencer D, Musasa Hanshi-Hatuhu H, Kambale-Mastaki V, Manalo RVM, Mohammed A, McIlwain DR, Cunningham G, Summar M, Boivin MJ, Caldovic L, Vilain E, Mumba-Ngoyi D, Tshala-Katumbay D, Droit A. Bramble MS, et al. Among authors: summar m. Nat Commun. 2024 Sep 6;15(1):7811. doi: 10.1038/s41467-024-52136-5. Nat Commun. 2024. PMID: 39242582 Free PMC article.
Liver transplantation for pediatric metabolic disease.
Mazariegos G, Shneider B, Burton B, Fox IJ, Hadzic N, Kishnani P, Morton DH, McIntire S, Sokol RJ, Summar M, White D, Chavanon V, Vockley J. Mazariegos G, et al. Among authors: summar m. Mol Genet Metab. 2014 Apr;111(4):418-27. doi: 10.1016/j.ymgme.2014.01.006. Epub 2014 Jan 17. Mol Genet Metab. 2014. PMID: 24495602 Review.
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Natural history of propionic acidemia.
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Pena L, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Mol Genet Metab. 2012. PMID: 21986446 Review.
188 results