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

Year Number of Results
1946 1
1955 1
1956 1
1958 1
1959 1
1960 1
1961 1
1963 1
1964 2
1966 2
1968 1
1969 1
1973 1
1974 1
1981 2
1983 1
1985 2
1987 3
1988 2
1989 2
2007 3
2009 1
2011 1
2012 2
2014 1
2015 1
2017 2
2018 4
2021 1
2023 1
2024 0

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43 results

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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: cooper ns. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: cooper ns. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: cooper ns. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
Myofunctional therapy.
Cooper NS. Cooper NS. Int J Orthod. 1973 Sep;11(3):81-7. Int J Orthod. 1973. PMID: 4518175 No abstract available.
Intravenous dexamethasone and caudal analgesia.
Cooper NS. Cooper NS. Br J Anaesth. 2011 Jan;106(1):145; author reply 145-6. doi: 10.1093/bja/aeq347. Br J Anaesth. 2011. PMID: 21148639 Free article. No abstract available.
Pathology of rheumatoid arthritis.
Cooper NS. Cooper NS. Med Clin North Am. 1968 May;52(3):607-21. Med Clin North Am. 1968. PMID: 5653938 No abstract available.
Arteritis in rheumatoid arthritis.
SCHMID FR, COOPER NS, ZIFF M, McEWEN C. SCHMID FR, et al. Among authors: cooper ns. Am J Med. 1961 Jan;30:56-83. doi: 10.1016/0002-9343(61)90064-x. Am J Med. 1961. PMID: 13747901 No abstract available.
Diagnostic specificity of synovial lesions.
Cooper NS, Soren A, McEwen C, Rosenberger JL. Cooper NS, et al. Hum Pathol. 1981 Apr;12(4):314-28. doi: 10.1016/s0046-8177(81)80141-4. Hum Pathol. 1981. PMID: 7239500
43 results