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

Year Number of Results
1979 1
1980 1
1981 1
1983 2
1985 1
1986 2
1987 2
1988 2
1989 2
1990 3
1991 2
1992 4
1998 3
1999 2
2000 1
2002 1
2003 2
2005 3
2006 1
2008 1
2009 5
2010 7
2011 7
2012 4
2013 3
2014 1
2016 5
2017 4
2018 2
2019 6
2020 3
2021 2
2022 1
2023 1

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81 results

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Page 1
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: verheijen fw. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Lysosomal transport disorders.
Mancini GM, Havelaar AC, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. J Inherit Metab Dis. 2000 May;23(3):278-92. doi: 10.1023/a:1005640214408. J Inherit Metab Dis. 2000. PMID: 10863944 Review.
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS. Ragamin A, et al. Among authors: verheijen fw. Am J Med Genet A. 2020 Jun;182(6):1378-1386. doi: 10.1002/ajmg.a.61570. Epub 2020 Mar 25. Am J Med Genet A. 2020. PMID: 32212377 Free PMC article.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network; Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: verheijen fw. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Göhlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R. Stroobants S, et al. Among authors: verheijen fw. Exp Neurol. 2017 May;291:106-119. doi: 10.1016/j.expneurol.2017.02.009. Epub 2017 Feb 9. Exp Neurol. 2017. PMID: 28189729 Free article.
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP. Niño MY, et al. Among authors: verheijen fw. Eur J Hum Genet. 2021 Mar;29(3):434-446. doi: 10.1038/s41431-020-00752-2. Epub 2020 Nov 8. Eur J Hum Genet. 2021. PMID: 33162552 Free PMC article.
81 results