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

Year Number of Results
1953 2
1954 3
1955 2
1956 2
1959 2
1960 8
1961 1
1962 3
1964 5
1965 4
1966 6
1967 7
1968 4
1969 6
1970 6
1971 11
1972 11
1973 7
1974 8
1975 7
1976 13
1977 4
1978 3
1979 8
1980 7
1981 8
1982 2
1983 5
1984 6
1985 9
1986 3
1987 8
1988 6
1989 5
1990 14
1991 6
1992 5
1993 1
1994 7
1995 4
1996 4
1997 6
1998 9
1999 3
2000 8
2001 3
2002 7
2003 6
2004 14
2005 13
2006 13
2007 11
2008 16
2009 22
2010 15
2011 11
2012 10
2013 12
2014 11
2015 10
2016 24
2017 22
2018 16
2019 13
2020 19
2021 15
2022 19
2023 15
2024 7

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Search Results

538 results

Results by year

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Page 1
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, … See abstract for full author list ➔ Trubetskoy V, et al. Among authors: macek m jr. Nature. 2022 Apr;604(7906):502-508. doi: 10.1038/s41586-022-04434-5. Epub 2022 Apr 8. Nature. 2022. PMID: 35396580 Free PMC article.
The future of cystic fibrosis care: a global perspective.
Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, Burgel PR, Tullis E, Castaños C, Castellani C, Byrnes CA, Cathcart F, Chotirmall SH, Cosgriff R, Eichler I, Fajac I, Goss CH, Drevinek P, Farrell PM, Gravelle AM, Havermans T, Mayer-Hamblett N, Kashirskaya N, Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O'Neill C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL, Zampoli M, Ratjen F. Bell SC, et al. Among authors: macek m. Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27. Lancet Respir Med. 2020. PMID: 31570318 Free PMC article. Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: macek m. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Castellani C, et al. Among authors: macek m jr. J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. J Cyst Fibros. 2008. PMID: 18456578 Free PMC article. Review.
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: macek m. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC); Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thi… See abstract for full author list ➔ Paternoster L, et al. Among authors: macek m. Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19. Nat Genet. 2015. PMID: 26482879 Free PMC article.
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Steiner B, et al. Among authors: macek m jr. Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520337
Gynecological lesions in hereditary cancer predisposition syndromes.
Dundr P, Cibula D, Foretová L, Macek M Jr, Kopečková K, Petruželka L, Němejcová K, Bártů M, Hojný J, Hájková N, Jakša R, Janega P, Stružinská I. Dundr P, et al. Among authors: macek m jr. Cesk Patol. 2021 Summer;57(2):96-104. Cesk Patol. 2021. PMID: 34275319 Review. English.
[Genetics].
Macek M. Macek M. Cesk Pediatr. 1976 Feb;31(2):92-4. Cesk Pediatr. 1976. PMID: 944106 Czech. No abstract available.
538 results