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

Year Number of Results
2002 3
2003 5
2004 4
2006 2
2007 1
2008 3
2009 1
2010 1
2011 3
2012 1
2013 1
2014 2
2015 3
2016 6
2017 9
2018 5
2019 11
2020 4
2021 6
2022 2
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65 results
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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: waisbren se. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
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: waisbren se. 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.
Developmental Support for Infants With Genetic Disorders.
Wojcik MH, Stewart JE, Waisbren SE, Litt JS. Wojcik MH, et al. Among authors: waisbren se. Pediatrics. 2020 May;145(5):e20190629. doi: 10.1542/peds.2019-0629. Pediatrics. 2020. PMID: 32327449 Free PMC article. Review.
Revising the Psychiatric Phenotype of Homocystinuria.
Almuqbil MA, Waisbren SE, Levy HL, Picker JD. Almuqbil MA, et al. Among authors: waisbren se. Genet Med. 2019 Aug;21(8):1827-1831. doi: 10.1038/s41436-018-0419-4. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643218 Free article.
The BabySeq project: implementing genomic sequencing in newborns.
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team, Green RC, Beggs AH. Holm IA, et al. Among authors: waisbren se. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.
65 results