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

Year Number of Results
1996 1
1997 8
1998 2
1999 2
2000 6
2001 7
2002 7
2003 3
2004 5
2005 9
2006 4
2007 11
2008 11
2009 8
2010 13
2011 13
2012 14
2013 8
2014 12
2015 7
2016 4
2017 10
2018 5
2019 16
2020 16
2021 8
2022 6
2023 8
2024 1

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190 results

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Page 1
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Kim J, et al. Among authors: bodamer o. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. N Engl J Med. 2019. PMID: 31597037 Free PMC article.
From Genotype to Phenotype-A Review of Kabuki Syndrome.
Barry KK, Tsaparlis M, Hoffman D, Hartman D, Adam MP, Hung C, Bodamer OA. Barry KK, et al. Among authors: bodamer oa. Genes (Basel). 2022 Sep 29;13(10):1761. doi: 10.3390/genes13101761. Genes (Basel). 2022. PMID: 36292647 Free PMC article. Review.
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: bodamer o. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: bodamer o. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: bodamer o. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Targeting neurological abnormalities in lysosomal storage diseases.
van Gool R, Tucker-Bartley A, Yang E, Todd N, Guenther F, Goodlett B, Al-Hertani W, Bodamer OA, Upadhyay J. van Gool R, et al. Among authors: bodamer oa. Trends Pharmacol Sci. 2022 Jun;43(6):495-509. doi: 10.1016/j.tips.2021.11.005. Epub 2021 Nov 27. Trends Pharmacol Sci. 2022. PMID: 34844772 Review.
Newborn Screening for Lysosomal Storage Disorders.
Peake RW, Bodamer OA. Peake RW, et al. Among authors: bodamer oa. J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2. J Pediatr Genet. 2017. PMID: 28180027 Free PMC article. Review.
Fabry disease defined.
Stromberger C, Bodamer OA. Stromberger C, et al. Among authors: bodamer oa. Eur J Clin Invest. 2004 Jun;34(6):449; author reply 450. doi: 10.1111/j.1365-2362.2004.01353.x. Eur J Clin Invest. 2004. PMID: 15200498 No abstract available.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: bodamer o. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
190 results