نتائج البحث - "Perdu B"

المصدر: Perdu , B , Lakeman , P , Mortier , G , Koenig , R , Lachmeijer , A M A & Van Hul , W 2011 , ' Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis ' , Clinical Genetics , vol. 80 , no. 4 , pp. 383-388 . https://doi.org/10.1111/j.1399-0004.2010.01553.x

Relation: https://research.vumc.nl/en/publications/99cb876a-7e7c-47e0-8653-2dc2c14920d4

الاتاحة: https://research.vumc.nl/en/publications/99cb876a-7e7c-47e0-8653-2dc2c14920d4
https://doi.org/10.1111/j.1399-0004.2010.01553.x

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4

Academic Journal

Osteopathia Striata with Cranial Sclerosis Due to WTX Gene Defect

المؤلفون: Perdu, B., de, Freitas F., Frints, S. G., Schouten, M., Schrander‐Stumpel, Connie T. R. M., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., Vernejoul, M. C. de, Becker, Kristin Eva, Freckmann, M. L., Keymolen, K., Haan, E., Savarirayan, Ravi, Koenig, Rainer, Zabel, Bernhard, Vanhoenacker, F. M., Hul, Wim van

المصدر: Journal of Bone and Mineral Research. - 25, 1 (2010) , 82 - 90

Relation: https://freidok.uni-freiburg.de/data/83379

الاتاحة: https://freidok.uni-freiburg.de/data/83379

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5

Academic Journal

Osteopathia Striata with cranial sclerosis owing to WTX gene defect

المؤلفون: Perdu, B., de Freitas, F., Frints, S., Schouten, M., Schrander-Stumpel, C., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., de Vernejoul, M., Becker, K., Freckmann, M., Keymolin, K., Haan, E., Savarirayan, R., Koenig, B., Zabel, B., Vanhoenacker, F., Van Hul, W.

المصدر: http://dx.doi.org/10.1359/jbmr.090707.

مصطلحات موضوعية: osteopathia striata with cranial sclerosis, WTX, genotype, phenotype

Relation: Journal of Bone and Mineral Research, 2010; 25(1):82-90; http://hdl.handle.net/2440/59932; Haan, E. [0000-0002-7310-5124]

الاتاحة: http://hdl.handle.net/2440/59932
https://doi.org/10.1359/jbmr.090707

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Full Text Finder

6

Academic Journal

Identification of two novel WTX mutations in osteopathia striata with cranial sclerosis patients

المؤلفون: Perdu⁎, B., Lakeman, P., Lachmeijer, A., Koenig, R., Van Hul, W.

المصدر: Bone ; volume 47, page S51 ; ISSN 8756-3282

الاتاحة: http://dx.doi.org/10.1016/j.bone.2010.04.616
https://api.elsevier.com/content/article/PII:S875632821001207X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S875632821001207X?httpAccept=text/plain

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7

Academic Journal

Human recessive osteopetrosis ; New understanding of osteoclast function through molecular and functional analysis of a rare genetic bone disease

المؤلفون: Perdu, B., Coxon, F., Helfrich, M.

المساهمون: Scientist Office of the Scottish Executive

المصدر: Osteologie ; volume 18, issue 04, page 260-267 ; ISSN 1019-1291 2567-5818

الاتاحة: http://dx.doi.org/10.1055/s-0037-1619909
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0037-1619909.pdf

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8

Academic Journal

Osteopathia striata with cranial sclerosis due to mutations in the WTX gene

المؤلفون: Perdu, B., De Freitas, F., Frints, S., Schouten, M., Schrander-Stumpel, C., Barbosa, M., Pinto-Basto, J., Reis-Lima, M., de Vernejoul, M., Becker, K., Freckmann, M., Keymolen, K., Haan, E., Savarirayan, R., König, R., Zabel, B., Van Hul, W.

المصدر: Bone ; volume 44, page S233 ; ISSN 8756-3282

الاتاحة: http://dx.doi.org/10.1016/j.bone.2009.03.135
https://api.elsevier.com/content/article/PII:S8756328209006267?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S8756328209006267?httpAccept=text/plain

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9

PLEKHM1 is involved in osteoclastic vesicular transport and mutations in this gene cause osteopetrosis in incisors absent rat and human

المؤلفون: VAN WESENBEECK, L, Odgren, P. R., Coxon, F. P., Frattini, A, Moens, P, Perdu, B, Mackay, C. A., VAN HUL, E, Timmermans, J. P., Vanhoenacker, F, Jacobs, R, Peruzzi, B, Teti, ANNA MARIA, Helfrich, M. H., Rogers, M. J., Villa, A, VAN HUL, W.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3983::c70199e05832709f3cdec030e8ee0b26
http://hdl.handle.net/11697/1410

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10

Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W

المؤلفون: Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti AM, Helfrich MH, Rogers MJ, Villa A, Van Hul W.

المصدر: The Journal of clinical investigation 117 (2007): 919–930. doi:10.1172/JCI30328
info:cnr-pdr/source/autori:Van Wesenbeeck L; Odgren PR; Coxon FP; Frattini A; Moens P; Perdu B; MacKay CA; Van Hul E; Timmermans JP; Vanhoenacker F; Jacobs R; Peruzzi B; Teti AM; Helfrich MH; Rogers MJ; Villa A; Van Hul W./titolo:Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W./doi:10.1172%2FJCI30328/rivista:The Journal of clinical investigation/anno:2007/pagina_da:919/pagina_a:930/intervallo_pagine:919–930/volume:117

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::e9314ad5d52044f4b48e085ee45cd97f
https://publications.cnr.it/doc/183977

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