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

Year Number of Results
2001 1
2003 1
2005 1
2007 1
2008 2
2009 3
2010 2
2011 1
2012 1
2013 1
2016 1
2017 1
2019 4
2020 2
2021 0
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19 results
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Page 1
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 Free PMC article.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA. Johnson BV, et al. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Diesel Exhaust Induces Mitochondrial Dysfunction, Hyperlipidemia, and Liver Steatosis.
Yin F, Gupta R, Vergnes L, Driscoll WS, Ricks J, Ramanathan G, Stewart JA, Shih DM, Faull KF, Beaven SW, Lusis AJ, Reue K, Rosenfeld ME, Araujo JA. Yin F, et al. Arterioscler Thromb Vasc Biol. 2019 Sep;39(9):1776-1786. doi: 10.1161/ATVBAHA.119.312736. Epub 2019 Jul 25. Arterioscler Thromb Vasc Biol. 2019. PMID: 31340670 Free PMC article.
FOCUS: Future of fecal calprotectin utility study in inflammatory bowel disease.
Rosenfeld G, Greenup AJ, Round A, Takach O, Halparin L, Saadeddin A, Ho JK, Lee T, Enns R, Bressler B. Rosenfeld G, et al. World J Gastroenterol. 2016 Sep 28;22(36):8211-8. doi: 10.3748/wjg.v22.i36.8211. World J Gastroenterol. 2016. PMID: 27688663 Free PMC article.
One hundred and ninety patients were known to have IBD; 147 (77%) with Crohn's Disease, 43 (21%) Ulcerative Colitis and 5 (2%) IBD unclassified. ...
One hundred and ninety patients were known to have IBD; 147 (77%) with Crohn's Disease, 43 (21%) Ulcerative Colitis and 5 (2%) IBD un …
Mild intraoperative hypothermia during surgery for intracranial aneurysm.
Todd MM, Hindman BJ, Clarke WR, Torner JC; Intraoperative Hypothermia for Aneurysm Surgery Trial (IHAST) Investigators. Todd MM, et al. N Engl J Med. 2005 Jan 13;352(2):135-45. doi: 10.1056/NEJMoa040975. N Engl J Med. 2005. PMID: 15647576 Free article. Clinical Trial.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. Nguyen TTM, et al. Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020. Am J Hum Genet. 2017. PMID: 29100095 Free PMC article.
GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of …
GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, …
Effect of nitrous oxide on neurologic and neuropsychological function after intracranial aneurysm surgery.
McGregor DG, Lanier WL, Pasternak JJ, Rusy DA, Hogan K, Samra S, Hindman B, Todd MM, Schroeder DR, Bayman EO, Clarke W, Torner J, Weeks J; Intraoperative Hypothermia for Aneurysm Surgery Trial Investigators. McGregor DG, et al. Anesthesiology. 2008 Apr;108(4):568-79. doi: 10.1097/ALN.0b013e31816721fa. Anesthesiology. 2008. PMID: 18362587 Free article.
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