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

Year Number of Results
1984 1
1988 2
1989 3
1990 1
1991 2
1992 1
1993 1
1995 2
1996 2
2000 2
2001 2
2002 2
2005 2
2006 3
2007 4
2008 1
2014 1
2015 5
2016 2
2017 2
2018 4
2019 5
2020 3
2021 5
2022 2
2023 7
2024 2

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61 results

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Page 1
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: erwin al. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
Complete genome sequence of Pseudomonas aeruginosa PAO1, an opportunistic pathogen.
Stover CK, Pham XQ, Erwin AL, Mizoguchi SD, Warrener P, Hickey MJ, Brinkman FS, Hufnagle WO, Kowalik DJ, Lagrou M, Garber RL, Goltry L, Tolentino E, Westbrock-Wadman S, Yuan Y, Brody LL, Coulter SN, Folger KR, Kas A, Larbig K, Lim R, Smith K, Spencer D, Wong GK, Wu Z, Paulsen IT, Reizer J, Saier MH, Hancock RE, Lory S, Olson MV. Stover CK, et al. Among authors: erwin al. Nature. 2000 Aug 31;406(6799):959-64. doi: 10.1038/35023079. Nature. 2000. PMID: 10984043
Congenital erythropoietic porphyria: Recent advances.
Erwin AL, Desnick RJ. Erwin AL, et al. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27. Mol Genet Metab. 2019. PMID: 30685241 Free PMC article. Review.
Porphyrias in the Age of Targeted Therapies.
Erwin AL, Balwani M. Erwin AL, et al. Diagnostics (Basel). 2021 Sep 29;11(10):1795. doi: 10.3390/diagnostics11101795. Diagnostics (Basel). 2021. PMID: 34679493 Free PMC article. Review.
Pharmacogenomics: An evolving clinical tool for precision medicine.
Hockings JK, Pasternak AL, Erwin AL, Mason NT, Eng C, Hicks JK. Hockings JK, et al. Among authors: erwin al. Cleve Clin J Med. 2020 Feb;87(2):91-99. doi: 10.3949/ccjm.87a.19073. Cleve Clin J Med. 2020. PMID: 32015062 Free article. Review.
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Dickey AK, et al. Among authors: erwin al. J Am Acad Dermatol. 2023 Dec;89(6):1227-1237. doi: 10.1016/j.jaad.2022.08.036. Epub 2022 Aug 27. J Am Acad Dermatol. 2023. PMID: 36041558
61 results