Male patients affected by mosaic PCDH19 mutations: five new cases

IM de Lange; P Rump; Rinze Neuteboom; PB Augustijn; K Hodges; AI Kistemaker; OF Brouwer; Grazia Verheijen - Mancini; HA Newman; YJ Vos; KL Helbig; C Peeters-Scholte; M Kriek; NV Knoers; D Lindhout; BPC Koeleman; MJA van Kempen; EH Brilstra

doi:10.1007/s10048-017-0517-5

Male patients affected by mosaic PCDH19 mutations: five new cases

IM de Lange, P Rump, Rinze Neuteboom, PB Augustijn, K Hodges, AI Kistemaker, OF Brouwer, Grazia Verheijen - Mancini, HA Newman, YJ Vos, KL Helbig, C Peeters-Scholte, M Kriek, NV Knoers, D Lindhout, BPC Koeleman, MJA van Kempen, EH Brilstra

Research output: Contribution to journal › Article › Academic › peer-review

34 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	147-153
Number of pages	7
Journal	Neurogenetics
Volume	18
Issue number	3
DOIs	https://doi.org/10.1007/s10048-017-0517-5
Publication status	Published - 2017

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10.1007/s10048-017-0517-5

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de Lange, IM., Rump, P., Neuteboom, R., Augustijn, PB., Hodges, K., Kistemaker, AI., Brouwer, OF., Verheijen - Mancini, G., Newman, HA., Vos, YJ., Helbig, KL., Peeters-Scholte, C., Kriek, M., Knoers, NV., Lindhout, D., Koeleman, BPC., van Kempen, MJA., & Brilstra, EH. (2017). Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics, 18(3), 147-153. https://doi.org/10.1007/s10048-017-0517-5

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title = "Male patients affected by mosaic PCDH19 mutations: five new cases",

author = "{de Lange}, IM and P Rump and Rinze Neuteboom and PB Augustijn and K Hodges and AI Kistemaker and OF Brouwer and {Verheijen - Mancini}, Grazia and HA Newman and YJ Vos and KL Helbig and C Peeters-Scholte and M Kriek and NV Knoers and D Lindhout and BPC Koeleman and {van Kempen}, MJA and EH Brilstra",

year = "2017",

doi = "10.1007/s10048-017-0517-5",

language = "Undefined/Unknown",

volume = "18",

pages = "147--153",

journal = "Neurogenetics",

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de Lange, IM, Rump, P, Neuteboom, R, Augustijn, PB, Hodges, K, Kistemaker, AI, Brouwer, OF, Verheijen - Mancini, G, Newman, HA, Vos, YJ, Helbig, KL, Peeters-Scholte, C, Kriek, M, Knoers, NV, Lindhout, D, Koeleman, BPC, van Kempen, MJA & Brilstra, EH 2017, 'Male patients affected by mosaic PCDH19 mutations: five new cases', Neurogenetics, vol. 18, no. 3, pp. 147-153. https://doi.org/10.1007/s10048-017-0517-5

TY - JOUR

T1 - Male patients affected by mosaic PCDH19 mutations: five new cases

AU - de Lange, IM

AU - Rump, P

AU - Neuteboom, Rinze

AU - Augustijn, PB

AU - Hodges, K

AU - Kistemaker, AI

AU - Brouwer, OF

AU - Verheijen - Mancini, Grazia

AU - Newman, HA

AU - Vos, YJ

AU - Helbig, KL

AU - Peeters-Scholte, C

AU - Kriek, M

AU - Knoers, NV

AU - Lindhout, D

AU - Koeleman, BPC

AU - van Kempen, MJA

AU - Brilstra, EH

PY - 2017

Y1 - 2017

U2 - 10.1007/s10048-017-0517-5

DO - 10.1007/s10048-017-0517-5

M3 - Article

SN - 1364-6745

VL - 18

SP - 147

EP - 153

JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -