نتائج البحث - "Wermenbol, V"

1

دورية أكاديمية

Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Plus

المؤلفون: Anderson, B, Kasher, P, Mayer, J, Szynkiewicz, M, Jenkinson, E, Bhaskar, S, Urquhart, J, Daly, S, Dickerson, J, O'Sullivan, J, Leibundgut, E, Muter, J, Abdel-Salem, G, Babul-Hirji, R, Baxter, P, Berger, A, Bonafé, L, Brunstom-Hernandez, J, Buckard, J, Chitayat, D, Chong, W, Cordelli, D, Ferreira, P, Fluss, J, Forrest, E, Franzoni, E, Garone, C, Hammans, S, Houge, G, Hughes, I, Jacquemont, S, Jeannet, P, Jefferson, R, Kumar, R, Kutschke, G, Lundberg, S, Lourenço, C, Mehta, R, Naidu, S, Nischal, K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S, Schiffmann, R, Soh, C, Stephenson, J, Stewart, H, Stone, J, Tolmie, J, van der Knaap, M, Vieira, JP, Vilain, C, Wakeling, E, Wermenbol, V, Whitney, A, Lovell, S, Meyer, S, Livingston, J, Baerlocher, G, Black, G, Rice, G, Crow, Y

مصطلحات موضوعية: Abnormalities, Multiple, Base Sequence, Flow Cytometry, Genetic Predisposition to Disease, Histones, Molecular Sequence Data, Retinal Telangiectasis, Sequence Analysis, DNA, Telomere, Telomere-Binding Proteins, HDE NEU PED, HDE GEN

العلاقة: Nat Genet. 2012 Jan 22;44(3):338-42; http://hdl.handle.net/10400.17/2516Test

الإتاحة: https://doi.org/10.1038/ng.1084Test
http://hdl.handle.net/10400.17/2516Test

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2

دورية أكاديمية

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

المؤلفون: Rice, G. I., Forte, G. M. A., Szynkiewicz, M., Chase, D. S., Aeby, A., Abdel-Hamid, M. S., Ackroyd, S., Allcock, R., Bailey, K. M., Balottin, U., Barnerias, C., Bernard, G., Bodemer, C., Botella, M. P., Cereda, C., Chandler, K. E., Dabydeen, L., Dale, R. C., De Laet, C., De Goede, C. G E L, del Toro, M., Effat, L., Enamorado, N. N., Fazzi, E., Gener, B., Haldre, M., Lin, J.-P. S-M, Livingston, J. H., Lourenco, C. M., Marques, W., Oades, Patrick, Peterson, P., Rasmussen, M., Roubertie, A., Schmidt, J. L., Shalev, S. A., Simon, R., Spiegel, R., Swoboda, K. J., Temtamy, S.A., Vassallo, G., Vilain, C.N., Vogt, J., Wermenbol, V., Whitehouse, W. P., Soler, D., Olivieri, I., Orcesi, S., Aglan, M. S., Zaki, M. S., Abdel-Salam, G. M. H., Vanderver, A., Kisand, K., Rozenberg, F., Lebon, P., Crow, Y. J.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Wessex Classification Subject Headings::Paediatrics

العلاقة: http://linkinghub.elsevier.com/retrieve/pii/S1474442213702588Test; Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study 2013, 12 (12):1159 The Lancet Neurology; http://hdl.handle.net/11287/607447Test; The Lancet Neurology

الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70258-8
http://hdl.handle.net/11287/607447Test

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3

دورية أكاديمية

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

المساهمون: Rice, Gi, Forte, Gm, Szynkiewicz, M, Chase, D, Aeby, A, Abdel Hamid, M, Ackroyd, S, Allcock, R, Bailey, Km, Balottin, Umberto, Barnerias, C, Bernard, G, Bodemer, C, Botella, Mp, Cereda, C, Chandler, Ke, Dabydeen, L, Dale, Rc, De Laet, C, De Goede, Cg, Del Toro, M, Effat, L, Enamorado, Nn, Fazzi, E, Gener, B, Haldre, M, Lin, Jp, Livingston, Jh, Lourenco, Cm, Marques W., Jr, Oades, P, Peterson, P, Rasmussen, M, Roubertie, A, Schmidt, Jl, Shalev, Sa, Simon, R, Spiegel, R, Swoboda, Kj, Temtamy, Sa, Vassallo, G, Vilain, Cn, Vogt, J, Wermenbol, V, Whitehouse, Wp, Soler, D, Olivieri, I, Orcesi, S, Aglan, M, Zaki, M, Abdel Salam, Gm, Vanderver, A, Kisand, K, Rozenberg, F, Lebon, P, Crow, Yj

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24183309; info:eu-repo/semantics/altIdentifier/wos/WOS:000327924100011; volume:12; issue:12; firstpage:1159; lastpage:1169; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/11571/859239Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887607415; http://www.ncbi.nlm.nih.gov/pubmed/24183309Test

الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70258-8
http://hdl.handle.net/11571/859239Test
http://www.ncbi.nlm.nih.gov/pubmed/24183309Test

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4

دورية أكاديمية

Can serious games be incorporated with conventional treatment of children with cerebral palsy? A review

المؤلفون: Bonnechère, B., Jansen, B., Omelina, L., Degelaen, M., Wermenbol, V., Rooze, M., Van Sint Jan, S.

المصدر: Research in Developmental Disabilities ; volume 35, issue 8, page 1899-1913 ; ISSN 0891-4222

مصطلحات موضوعية: Clinical Psychology, Developmental and Educational Psychology

الإتاحة: https://doi.org/10.1016/j.ridd.2014.04.016Test
https://api.elsevier.com/content/article/PII:S0891422214001656?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0891422214001656?httpAccept=text/plainTest

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5

دورية أكاديمية

PP1.5 – 1899 Management and interpretation of medical data related to cerebral palsy: the ICT4 Rehab project

المؤلفون: Bonnechère, B, Wermenbol, V, Dan, B, Salvia, P, Le Borgne, Y, Bontempi, G, Vansummeren, S, Sholukha, V, Moiseev, F, Jansen, B, Rooze, M, Van Sint Jan, S

المصدر: European Journal of Paediatric Neurology ; volume 17, page S32 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70106-5
https://api.elsevier.com/content/article/PII:S1090379813701065?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379813701065?httpAccept=text/plainTest

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6

دورية أكاديمية

Decreased spontaneous arousability in preterm newborns with impaired neurological outcome

المؤلفون: Thiriez, G., Tournoud, Maud, Wermenbol, V., Vermeylen, D., Ecochard, René, Iwaz, J., Sheng Lin, J., Franco, P.

المساهمون: Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0962-1105.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-02278588; https://univ-lyon1.hal.science/hal-02278588Test

الإتاحة: https://doi.org/10.1111/j.1365-2869.2012.01004.xTest
https://univ-lyon1.hal.science/hal-02278588Test

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7

دورية أكاديمية

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

المؤلفون: Anderson, B.H., Kasher, P.R., Mayer, J., Szynkiewicz, M., Jenkinson, E.M., Bhaskar, S.S., Urquhart, J.E., Daly, S.B., Dickerson, J.E., O'Sullivan, J., Leibundgut, E.O., Muter, J., Abdel-Salem, G.M.H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J.E., Buckard, J.A., Chitayat, D., Chong, W.K., Cordelli, D.M., Ferreira, P., Fluss, J., Forrest, E., Franzoni, E., Garone, C., Hammans, S.R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P., Jefferson, R.J., Kumar, R., Kutschke, G., Lundberg, S., Lourenço, C.M., Mehta, R., Naidu, S., Nischal, K.K., Nunes, L., Õunap, K., Philippart, M., Prabhakar, P., Risen, S.R., Schiffmann, R., Soh, C., Stephenson, J., Stewart, H., Stone, J., Tolmie, J., van der Knaap, M.S., Vieira, J.P., Vilain, C.N., Wakeling, E.L., Wermenbol, V., Whitney, A., Lovell, S.C., Meyer, S., Livingston, J.H., Baerlocher, G.M., Black, G.C.M., Rice, G.I., Crow, Y.J.

العلاقة: Anderson, B.H. et al. (2012) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics , 44(3), pp. 338-342. (doi:10.1038/ng.1084 ) (PMID:22267198)

الإتاحة: https://doi.org/10.1038/ng.1084Test
http://eprints.gla.ac.uk/61372Test/

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