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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345025
Free PMC article.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M.
Chau C, et al. Among authors: van paassen bw.
Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114.
Cancers (Basel). 2019.
PMID: 31382694
Free PMC article.
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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
van Paassen BW, Bronk M, Verhamme C, van Ruissen F, Baas F, van Spaendonck-Zwarts KY, de Visser M.
van Paassen BW, et al.
J Peripher Nerv Syst. 2017 Dec;22(4):464-467. doi: 10.1111/jns.12236. Epub 2017 Sep 11.
J Peripher Nerv Syst. 2017.
PMID: 28837237
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The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ.
de Vries SD, et al. Among authors: van paassen bw.
J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x.
J Peripher Nerv Syst. 2011.
PMID: 21692910
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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M.
van Paassen BW, et al.
Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38.
Orphanet J Rare Dis. 2014.
PMID: 24646194
Free PMC article.
Review.
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Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1A.
Jagersma E, Jeukens-Visser M, van Paassen BW, Meester-Delver A, Nollet F.
Jagersma E, et al. Among authors: van paassen bw.
J Child Neurol. 2013 Apr;28(4):429-34. doi: 10.1177/0883073812447681. Epub 2012 Jun 29.
J Child Neurol. 2013.
PMID: 22752492
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