PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
van Paassen, Barbara W, van der Kooi, Anneke J, van Spaendonck-Zwarts, Karin Y, Verhamme, Camiel, Baas, Frank, de Visser, Marianne
Published in Orphanet journal of rare diseases (19.03.2014)
Published in Orphanet journal of rare diseases (19.03.2014)
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje
Published in Cancers (04.08.2019)
Published in Cancers (04.08.2019)
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Journal Article
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
van Paassen, Barbara W., Bronk, Marieke, Verhamme, Camiel, van Ruissen, Fred, Baas, Frank, van Spaendonck‐Zwarts, Karin Y., de Visser, Marianne
Published in Journal of the peripheral nervous system (01.12.2017)
Published in Journal of the peripheral nervous system (01.12.2017)
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Journal Article
The phenotype of the Gly94fsX222 PMP22 insertion
de Vries, Sara D. J., Verhamme, Camiel, van Ruissen, Fred, van Paassen, Barbara W., Arts, Willem F., Kerkhoff, Henk, van Engelen, Baziel G. M., Lammens, Martin, de Visser, Marianne, Baas, Frank, van der Kooi, Anneke J.
Published in Journal of the peripheral nervous system (01.06.2011)
Published in Journal of the peripheral nervous system (01.06.2011)
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Journal Article
Human basal cortisol levels are increased in hospital compared to home setting
Scheer, Frank A.J.L., Van Paassen, Barbara, Van Montfrans, Gert A., Fliers, Eric, Van Someren, Eus J.W., Van Heerikhuize, Joop J., Buijs, Ruud M.
Published in Neuroscience letters (22.11.2002)
Published in Neuroscience letters (22.11.2002)
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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen
Published in European journal of human genetics : EJHG (01.11.2023)
Published in European journal of human genetics : EJHG (01.11.2023)
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Journal Article
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
van Paassen, Barbara W, Bronk, Marieke, Verhamme, Camiel, van Ruissen, Fred, Baas, Frank, van Spaendonck-Zwarts, Karin Y, de Visser, Marianne
Published in Journal of the peripheral nervous system : JPNS (01.12.2017)
Published in Journal of the peripheral nervous system : JPNS (01.12.2017)
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