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Results by year

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

Year Number of Results
1948 2
1949 1
1950 4
1951 1
1952 2
1955 1
1957 1
1958 2
1959 1
1972 2
1973 1
1976 2
1977 2
1978 2
1980 2
1981 1
1982 2
1983 2
1984 2
1985 2
1986 1
1987 2
1988 2
1989 6
1990 2
1991 3
1992 4
1993 8
1994 9
1995 11
1996 6
1997 9
1998 9
1999 12
2000 15
2001 10
2002 10
2003 7
2004 7
2005 9
2006 11
2007 9
2008 11
2009 15
2010 12
2011 18
2012 16
2013 18
2014 23
2015 18
2016 16
2017 16
2018 16
2019 13
2020 17
2021 25
2022 21
2023 1
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Search Results

407 results
Results by year
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Page 1
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Among authors: bosch dgm. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: bosch dgm. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Authors' reply.
Aboal J, Núñez M, Bosch D, Tirón C, Brugada R, Loma-Osorio P. Aboal J, et al. Among authors: bosch d. Emergencias. 2018 Oct;30(5):366-367. Emergencias. 2018. PMID: 30260135 Free article. English, Spanish. No abstract available.
Femoral venipuncture.
BOSCH DT, KENGETER JP, BELING CA. BOSCH DT, et al. Am J Surg. 1950 May;79(5):722-4. doi: 10.1016/0002-9610(50)90340-0. Am J Surg. 1950. PMID: 15410950 No abstract available.
Patient Reported Outcomes in Microbial Keratitis.
Tuohy MM, Niziol LM, I Mian S, Ballouz D, Bosch D, Woodward MA. Tuohy MM, et al. Among authors: bosch d. Cornea. 2021 Jan;40(1):19-25. doi: 10.1097/ICO.0000000000002362. Cornea. 2021. PMID: 32482958 Free PMC article.
N-glycosylation of plant-produced recombinant proteins.
Bosch D, Castilho A, Loos A, Schots A, Steinkellner H. Bosch D, et al. Curr Pharm Des. 2013;19(31):5503-12. doi: 10.2174/1381612811319310006. Curr Pharm Des. 2013. PMID: 23394562 Review.
N-glycoproteomics in plants: perspectives and challenges.
Song W, Henquet MG, Mentink RA, van Dijk AJ, Cordewener JH, Bosch D, America AH, van der Krol AR. Song W, et al. Among authors: bosch d. J Proteomics. 2011 Aug 12;74(8):1463-74. doi: 10.1016/j.jprot.2011.05.007. Epub 2011 May 12. J Proteomics. 2011. PMID: 21605711 Review.
407 results