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

Year Number of Results
1962 1
1965 3
1967 1
1968 2
1970 1
1971 2
1972 4
1974 3
1975 1
1976 2
1977 2
1978 4
1979 1
1980 4
1981 5
1982 5
1983 6
1984 2
1985 8
1986 3
1987 12
1988 6
1989 10
1990 10
1991 11
1992 11
1993 20
1994 19
1995 25
1996 24
1997 22
1998 25
1999 30
2000 26
2001 26
2002 26
2003 32
2004 32
2005 42
2006 23
2007 30
2008 37
2009 28
2010 41
2011 51
2012 46
2013 43
2014 43
2015 38
2016 34
2017 37
2018 43
2019 49
2020 46
2021 40
2022 64
2023 58
2024 46

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1,134 results

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Page 1
Systemic sclerosis: one year in review 2022.
Lepri G, Orlandi M, Di Battista M, De Mattia G, Da Rio M, Codullo V, Guiducci S, Della Rossa A. Lepri G, et al. Among authors: da rio m. Clin Exp Rheumatol. 2022 Oct;40(10):1911-1920. doi: 10.55563/clinexprheumatol/3401fl. Epub 2022 Sep 21. Clin Exp Rheumatol. 2022. PMID: 36135958 Free article. Review.
Systemic sclerosis: one year in review 2023.
Di Battista M, Lepri G, Codullo V, Da Rio M, Fiorentini E, Della Rossa A, Guiducci S. Di Battista M, et al. Among authors: da rio m. Clin Exp Rheumatol. 2023 Aug;41(8):1567-1574. doi: 10.55563/clinexprheumatol/ki76s5. Epub 2023 May 17. Clin Exp Rheumatol. 2023. PMID: 37199215 Free article. Review.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. Among authors: rio m. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: rio m. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: rio m. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Cantharidin: A Multiporpuse Beetlejuice.
Safenraiter ME, Soldini MPC, Del Río MG. Safenraiter ME, et al. Among authors: del rio mg. Neotrop Entomol. 2024 Aug;53(4):964-971. doi: 10.1007/s13744-024-01164-3. Epub 2024 May 15. Neotrop Entomol. 2024. PMID: 38750300 Review.
Natural history of Myhre syndrome.
Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V. Yang DD, et al. Among authors: rio m. Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. Orphanet J Rare Dis. 2022. PMID: 35907855 Free PMC article.
Cyclooxygenase-2 and gastric carcinogenesis.
Saukkonen K, Rintahaka J, Sivula A, Buskens CJ, Van Rees BP, Rio MC, Haglund C, Van Lanschot JJ, Offerhaus GJ, Ristimaki A. Saukkonen K, et al. Among authors: rio mc. APMIS. 2003 Oct;111(10):915-25. doi: 10.1034/j.1600-0463.2003.1111001.x. APMIS. 2003. PMID: 14616542 Review.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: rio m. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: rio m. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
1,134 results