The Human Phenotype Ontology von Robinson, PN, Mundlos, S

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TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell–Related Pathology von Dziubianau, M., Hecht, J., Kuchenbecker, L., Sattler, A., Stervbo, U., Rödelsperger, C., Nickel, P., Neumann, A. U., Robinson, P. N., Mundlos, S., Volk, H.‐D., Thiel, A., Reinke, P., Babel, N.

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Strategies for exome and genome sequence data analysis in disease-gene discovery projects von Robinson, PN, Krawitz, P, Mundlos, S

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The carbon footprint of surgical operations: a systematic review update von Robinson, P N, Surendran, Ksb, Lim, S J, Robinson, M

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The molecular genetics of Marfan syndrome and related disorders von Robinson, P N, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M

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The new Ghent criteria for Marfan syndrome: what do they change? von Faivre, L, Collod-Beroud, G, Adès, L, Arbustini, E, Child, A, Callewaert, BL, Loeys, B, Binquet, C, Gautier, E, Mayer, K, Arslan-Kirchner, M, Grasso, M, Beroud, C, Hamroun, D, Bonithon-Kopp, C, Plauchu, H, Robinson, PN, De Backer, J, Coucke, P, Francke, U, Bouchot, O, Wolf, JE, Stheneur, C, Hanna, N, Detaint, D, De Paepe, A, Boileau, C, Jondeau, G

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The molecular genetics of Marfan syndrome and related microfibrillopathies von Robinson, Peter N, Godfrey, Maurice

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Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51) von Goyal, S., Jäger, M., Robinson, P.N., Vanita, V.

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Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome von Sheikhzadeh, S, Kade, C, Keyser, B, Stuhrmann, M, Arslan-Kirchner, M, Rybczynski, M, Bernhardt, AM, Habermann, CR, Hillebrand, M, Mir, T, Robinson, PN, Berger, J, Detter, C, Blankenberg, S, Schmidtke, J, von Kodolitsch, Y

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The Tulip GT® airway versus the facemask and Guedel airway: a randomised, controlled, cross‐over study by Basic Life Support‐trained airway providers in anaesthetised patients von Shaikh, A., Robinson, P.N., Hasan, M.

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Urgency of caesarean section: A new classification von Lucas, D N, Yentis, S M, Kinsella, S M, Holdcroft, A, May, A E, Wee, M, Robinson, P N

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An ADEPT apology von Shaikh, A., Robinson, P. N.

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A simple clinical model to estimate the probability of Marfan syndrome von SHEIKHZADEH, S, KUSCH, M. L, BERGER, J, LORENZEN, V, SCHMIDTKE, J, BLANKENBERG, S, KODOLITSCH, Y. Von, RYBCZYNSKI, M, KADE, C, KEYSER, B, BERNHARDT, A. M, HILLEBRAND, M, MIR, T. S, FUISTING, B, ROBINSON, P. N

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Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation von Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C.R., Brockstaedt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P.N., Kutsche, K., Berger, J., Blankenberg, S., von Kodolitsch, Y.

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Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study von Faivre, L., Collod-Beroud, G., Loeys, B.L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H.C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P.N., Adès, L.C., Biggin, A., Benetts, B., Brett, M., Holman, K.J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C.

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What mothers know, and want to know, about the complications of general anaesthesia von JACKSON, G. N. B., ROBINSON, P. N., LUCAS, D. N., NATARAJAN, A., GOUGH, K., WOOLNOUGH, M., YENTIS, S. M.

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The molecular pathogenesis of the Marfan syndrome von Robinson, P N, Booms, P

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Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an... von Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B.L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Beroud, C., Bonithon-Kopp, C., Claustres, M., Stheneur, C., Bouchot, O., Wolf, J.E., Robinson, P.N., Adès, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G.

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Automatic concept recognition using the human phenotype ontology reference and test suite corpora von Groza, Tudor, Köhler, Sebastian, Doelken, Sandra, Collier, Nigel, Oellrich, Anika, Smedley, Damian, Couto, Francisco M, Baynam, Gareth, Zankl, Andreas, Robinson, Peter N

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Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2 von Sheikhzadeh, S, Rybczynski, M, Habermann, CR, Bernhardt, AMJ, Arslan-Kirchner, M, Keyser, B, Kaemmerer, H, Mir, TS, Staebler, A, Oezdal, N, Robinson, PN, Berger, J, Meinertz, T, von Kodolitsch, Y

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