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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 15
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Search Results

401 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.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: bosch dgm. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
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.
Ultrahigh-resolution quantitative spinal cord MRI at 9.4T.
Geldschläger O, Bosch D, Avdievich NI, Henning A. Geldschläger O, et al. Among authors: bosch d. Magn Reson Med. 2021 Feb;85(2):1013-1027. doi: 10.1002/mrm.28455. Epub 2020 Aug 12. Magn Reson Med. 2021. PMID: 32789980
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.
Local excitation universal parallel transmit pulses at 9.4T.
Geldschläger O, Bosch D, Glaser S, Henning A. Geldschläger O, et al. Among authors: bosch d. Magn Reson Med. 2021 Nov;86(5):2589-2603. doi: 10.1002/mrm.28905. Epub 2021 Jun 27. Magn Reson Med. 2021. PMID: 34180089
PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
Olofsen PA, Bosch DA, Roovers O, van Strien PMH, de Looper HWJ, Hoogenboezem RM, Barnhoorn S, Mastroberardino PG, Ghazvini M, van der Velden VHJ, Bindels EMJ, de Pater EM, Touw IP. Olofsen PA, et al. Among authors: bosch da. Blood Adv. 2021 Feb 9;5(3):775-786. doi: 10.1182/bloodadvances.2020003214. Blood Adv. 2021. PMID: 33560392 Free PMC article.
401 results