المؤلفون: Walker, N.C., White, S.M., Ruiz, S.M., Mckay fletcher, D., Saponari, M., Roose, T.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/490090/1/1-s2.0-S0022519324000183-main.pdf; Walker, N.C., White, S.M., Ruiz, S.M., Mckay fletcher, D., Saponari, M. and Roose, T. (2024) A mathematical model of biofilm growth and spread within plant xylem: case study of Xylella fastidiosa in olive trees. Journal of Theoretical Biology, 581, 111737, [111737]. (doi:10.1016/j.jtbi.2024.111737 ).

الاتاحة: https://eprints.soton.ac.uk/490090/
https://eprints.soton.ac.uk/490090/1/1-s2.0-S0022519324000183-main.pdf

المؤلفون: Chen, Y., Dawes, R., Kim, H.C., Ljungdahl, A., Stenton, S.L., Walker, S., Lord, J., Lemire, G., Martin-Geary, A.C., Ganesh, V.S., Ma, J., Ellingford, J.M., Delage, E., D’Souza, E.N., Dong, S., Adams, D.R., Allan, K., Bakshi, M., Baldwin, E.E., Berger, S.I., Bernstein, J.A., Bhatnagar, I., Blair, E., Brown, N.J., Burrage, L.C., Chapman, K., Coman, D.J., Compton, A.G., Cunningham, C.A., D’Souza, P., Danecek, P., Délot, E.C., Dias, K.-R., Elias, E.R., Elmslie, F., Evans, C.-A., Ewans, L., Ezell, K., Fraser, J.L., Gallacher, L., Genetti, C.A., Goriely, A., Grant, C.L., Haack, T., Higgs, J.E., Hinch, A.G., Hurles, M.E., Kuechler, A., Lachlan, K.L., Lalani, S.R., Lecoquierre, F., Leitão, E., Fevre, A.L., Leventer, R.J., Liebelt, J.E., Lindsay, S., Lockhart, P.J., Ma, A.S., Macnamara, E.F., Mansour, S., Maurer, T.M., Mendez, H.R., Metcalfe, K., Montgomery, S.B., Moosajee, M., Nassogne, M.-C., Neumann, S., O’Donoghue, M., O’Leary, M., Palmer, E.E., Pattani, N., Phillips, J., Pitsava, G., Pysar, R., Rehm, H.L., Reuter, C.M., Revencu, N., Riess, A., Rius, R., Rodan, L., Roscioli, T., Rosenfeld, J.A., Sachdev, R., Shaw-Smith, C.J., Simons, C., Sisodiya, S.M., Snell, P., St Clair, L., Stark, Z., Stewart, H.S., Tan, T.Y., Tan, N.B., Temple, S.E.L., Thorburn, D.R., Tifft, C.J., Uebergang, E., VanNoy, G.E., Vasudevan, P., Vilain, E., Viskochil, D.H., Wedd, L., Wheeler, M.T., White, S.M., Wojcik, M., Wolfe, L.A., Wolfenson, Z., Wright, C.F., Xiao, C., Zocche, D., Rubenstein, J.L., Markenscoff-Papadimitriou, E., Fica, S.M., Baralle, D., Depienne, C., MacArthur, D.G., Howson, J.M.M., Sanders, S.J., O’Donnell-Luria, A., Whiffin, N.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/214723/38/s41586-024-07773-7.pdf; Chen, Y. orcid.org/0000-0001-5593-6920 , Dawes, R. orcid.org/0000-0003-2135-0117 , Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

الاتاحة: https://eprints.whiterose.ac.uk/214723/
https://eprints.whiterose.ac.uk/214723/38/s41586-024-07773-7.pdf

المؤلفون: Abramov, A., Broggi, G., Bruce, R., Carlier, F., Hofer, M., Iadarola, G., Nevay, L.J., Pieloni, T., Rakic, M., Redaelli, S., White, S.M.

المصدر: Journal of Instrumentation ; volume 19, issue 02, page T02004 ; ISSN 1748-0221

الاتاحة: http://dx.doi.org/10.1088/1748-0221/19/02/t02004
https://iopscience.iop.org/article/10.1088/1748-0221/19/02/T02004
https://iopscience.iop.org/article/10.1088/1748-0221/19/02/T02004/pdf

المؤلفون: White, S.M., Tedore, T., Shelton, C.L.

وصف الملف: text

Relation: https://eprints.lancs.ac.uk/id/eprint/191233/1/There_is_probably_no_meaningful_difference_in_most_outcomes_between_spinal_and_general_anaesthesia_for_hip_fracture_surgery_Accepted_Version.pdf; White, S.M. and Tedore, T. and Shelton, C.L. (2023) There is (probably) no (meaningful) difference in (most) outcomes between ‘spinal' and ‘general' anaesthesia for hip fracture surgery : time to move forward. British Journal of Anaesthesia, 130 (4). pp. 385-389. ISSN 0007-0912

الاتاحة: https://eprints.lancs.ac.uk/id/eprint/191233/
https://eprints.lancs.ac.uk/id/eprint/191233/1/There_is_probably_no_meaningful_difference_in_most_outcomes_between_spinal_and_general_anaesthesia_for_hip_fracture_surgery_Accepted_Version.pdf

المؤلفون: McClymont, E.L., Ho, S.L., Ford, H.L., Bailey, I., Berke, M.A., Bolton, C.T., De, Schepper, S., Grant, G.R., Groeneveld, J., Inglis, G.N., Karas, C., Patterson, M.O., Swann, G.E.A., Thirumalai, K., White, S.M., Alonso-Garcia, M., Anand, P., Hoogakker, B.A.A., Littler, K., Petrick, B.F., Risebrobakken, B., Abell, J.T., Crocker, A.J., de, Graaf, F., Feakins, S.J., Hargreaves, J.C., Jones, C.L., Markowska, M., Ratnayake, A.S., Stepanek, C., Tangunan, D.

المساهمون: Department of Geosciences, The University of Arizona

المصدر: Reviews of Geophysics

مصطلحات موضوعية: climate proxies, data synthesis, paleoceanography, paleoclimate

Relation: McClymont, E. L., Ho, S. L., Ford, H. L., Bailey, I., Berke, M. A., Bolton, C. T., et al. (2023). Climate evolution through the onset and intensification of Northern Hemisphere Glaciation. Reviews of Geophysics, 61, e2022RG000793. https://doi.org/10.1029/2022RG000793; http://hdl.handle.net/10150/672984; Reviews of Geophysics

الاتاحة: http://hdl.handle.net/10150/672984
https://doi.org/10.1029/2022RG000793

المؤلفون: Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P., Hussain, M.S.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/21584/1/21584oa.pdf; http://edoc.mdc-berlin.de/21584/2/21584suppl.zip; De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Asif, M. and Kaygusuz, E. and Shinawi, M. and Nickelsen, A. and Hsieh, T.C. and Wagle, P. and Budde, B. and Hochscherf, J. and Abdullah, U. and Höning, S. and Nienberg, C. and Lindenblatt, D. and Noegel, A.A. and Altmüller, J. and Thiele, H. and Motameny, S. and Fleischer, N. and Segal, I. and Pais, L. and Tinschert, S. and Samra, N.G. and Savatt, J.M. and Rudy, N.L. and De Luca, C. and Fortugno, P. and White, S.M. and Krawitz, P. and Hurst, A.C.E. and Niefind, K. and Jose, J. and Brancati, F. and Nürnberg, P. and Hussain, M.S. Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022

الاتاحة: http://edoc.mdc-berlin.de/21584/
https://edoc.mdc-berlin.de/21584/
http://edoc.mdc-berlin.de/21584/1/21584oa.pdf
http://edoc.mdc-berlin.de/21584/2/21584suppl.zip
https://doi.org/10.1016/j.xhgg.2022.100111

المؤلفون: Balasubramanian, M. (Meena), Dingemans, A.J.M. (Alexander J. M.), Albaba, S. (Shadi), Richardson, R. (Ruth), Yates, T.M. (Thabo M.), Cox, H. (H.), Douzgou, S. (Sofia), Armstrong, R. (Ruth), Sansbury, F.H. (Francis H.), Burke, K.B. (Katherine B.), Fry, A.E. (Andrew E.), Ragge, N. (Nicola), Sharif, S. (Saba), Foster, A. (Alison), Sandre-Giovannoli, A. (Annachiara) de, Elouej, S. (Sahar), Vasudevan, P. (Pradeep), Mansour, S. (Sahar), Wilson, K. (Kate), Stewart, H. (Helen), Heide, S. (Solveig), Nava, C. (Caroline), Keren, B. (Boris), Demirdas, S. (Serwet), Brooks, A.S. (Alice S.), Vincent, M. (Marie), Isidor, B. (Bertrand), Küry, S. (Sebastien), Schouten, M. (Meyke), Leenders, E. (Erika), Chung, W. (Wendy), Haeringen, A. (Arie van), Scheffner, T. (Thomas), Debray, F.-G. (Francois-Guillaume), White, S.M. (Susan M.), Palafoll, M.I.V. (Maria Irene Valenzuela), Pfundt, R. (Rolph), Newbury-Ecob, R. (Ruth), Kleefstra, T. (Tjitske)

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/134409; urn:hdl:1765/134409

الاتاحة: http://repub.eur.nl/pub/134409
https://doi.org/10.1038/s41431-020-00769-7

المؤلفون: Li, D., Wang, Q., Gong, N.N., Kurolap, A., Feldman, H.B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M.J., Wakeling, E., Hurst, J., March, M.E., Bhoj, E.J., Nowaczyk, M.J.M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., Bartholomew, D., Huang, Y., Lee, H., Martinez-Agosto, J.A., Schwaibold, E.M.C., Brunet, T., Choukair, D., Pais, L.S., White, S.M., Christodoulou, J., Brown, D., Lindstrom, K., Grebe, T., Tiosano, D., Kayser, M.S., Tan, T.Y., Deardorff, M.A., Song, Y., Hakonarson, H.

المساهمون: College of Medicine, University of Arizona

المصدر: Science Advances

Relation: Li, D., Wang, Q., Gong, N. N., Kurolap, A., Feldman, H. B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M. J., Wakeling, E., Hurst, J., March, M. E., Bhoj, E. J., Nowaczyk, M. J. M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., … Hakonarson, H. (2021). Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science Advances, 7(20).; http://hdl.handle.net/10150/660625; Science Advances

الاتاحة: http://hdl.handle.net/10150/660625
https://doi.org/10.1126/sciadv.abf2066

المؤلفون: Balasubramanian, M., Dingemans, A.J.M., Albaba, S., Richardson, R., Yates, T.M., Cox, H., Douzgou, S., Armstrong, R., Sansbury, F.H., Burke, K.B., Fry, A.E., Ragge, N., Sharif, S., Foster, A., De Sandre-Giovannoli, A., Elouej, S., Vasudevan, P., Mansour, S., Wilson, K., Stewart, H., Heide, S., Nava, C., Keren, B., Demirdas, S., Brooks, A.S., Vincent, M., Isidor, B., Küry, S., Schouten, M., Leenders, E., Chung, W.K., Haeringen, A.V., Scheffner, T., Debray, F.-G., White, S.M., Palafoll, M.I.V., Pfundt, R., Newbury-Ecob, R., Kleefstra, T.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/170091/6/s41431-020-00769-7.pdf; Balasubramanian, M. orcid.org/0000-0003-1488-3695 , Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

الاتاحة: https://eprints.whiterose.ac.uk/170091/
https://eprints.whiterose.ac.uk/170091/6/s41431-020-00769-7.pdf

المؤلفون: Yigit, G., Saida, K., DeMarzo, D., Miyake, N., Fujita, A., Yang Tan, T., White, S.M., Wadley, A., Toliat, M.R., Motameny, S., Franitza, M., Stutterd, C.A., Chong, P.F., Kira, R., Sengoku, T., Ogata, K., Guillen Sacoto, M.J., Fresen, C., Beck, B.B., Nürnberg, P., Dieterich, C., Wollnik, B., Matsumoto, N., Altmüller, J.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/20496/1/20496oa.pdf; http://edoc.mdc-berlin.de/20496/7/20496suppl.docx; The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Yigit, G. and Saida, K. and DeMarzo, D. and Miyake, N. and Fujita, A. and Yang Tan, T. and White, S.M. and Wadley, A. and Toliat, M.R. and Motameny, S. and Franitza, M. and Stutterd, C.A. and Chong, P.F. and Kira, R. and Sengoku, T. and Ogata, K. and Guillen Sacoto, M.J. and Fresen, C. and Beck, B.B. and Nürnberg, P. and Dieterich, C. and Wollnik, B. and Matsumoto, N. and Altmüller, J. Human Mutation 41 (3): 591-599. March 2020

الاتاحة: http://edoc.mdc-berlin.de/20496/
https://edoc.mdc-berlin.de/20496/
http://edoc.mdc-berlin.de/20496/1/20496oa.pdf
http://edoc.mdc-berlin.de/20496/7/20496suppl.docx
https://doi.org/10.1002/humu.23964

المؤلفون: White, S.M., Tedore, T., Shelton, C.L.

مصطلحات الفهرس: Journal Article, PeerReviewed

URL: https://doi.org/10.1016/j.bja.2023.01.013
https://eprints.lancs.ac.uk/id/eprint/191233/
https://eprints.lancs.ac.uk/id/eprint/191233
https://doi.org/10.1016/j.bja.2023.01.013

المؤلفون: Smallwood, K., Watt, K.E.N., Ide, S., Baltrunaite, K., Brunswick, C., Inskeep, K., Capannari, C., Adam, M.P., Begtrup, A., Bertola, D.R., Demmer, L., Demo, E., Devinsky, O., Gallagher, E.R., Guillen Sacoto, M.J., Jech, R., Keren, B., Kussmann, J., Ladda, R., Lansdon, L.A., Lunke, S., Mardy, A., McWalters, K., Person, R., Raiti, L., Saitoh, N., Saunders, C.J., Schnur, R., Škorvánek, M., Sell, S.L., Slavotinek, A., Sullivan, B.R., Stark, Z., Symonds, J.D., Wenger, T., Weber, S., Whalen, S., White, S.M., Winkelmann, J., Zech, M., Zeidler, S., Maeshima, K., Stottmann, R.W., Trainor, P.A., Weaver, K.N.

المصدر: Am. J. Hum. Genet. 110, 809-825 (2023)

مصطلحات موضوعية: Rna Polymerase I, Acrofacial Dysostosis, Congenital Heart Defect, Craniofacial Anomalies, Developmental Delay, Epilepsy, Limb Defects, Neural Crest Cells, Ribosomal Rna, Ribosomopathies

Relation: info:eu-repo/semantics/altIdentifier/pmid/37075751; info:eu-repo/semantics/altIdentifier/wos/001000469500001; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/alt

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67684
https://doi.org/10.1016/j.ajhg.2023.03.014

المؤلفون: White, S.M., Altermatt, F., Barry, J., Ben-David, B., Coburn, M., Coluzzi, F., Degoli, M., Dillane, D., Foss, N.B., Gelmanas, A., Griffiths, R., Karpetas, G., Kim, J.-H., Kluger, M., Lau, P.-W., Matot, I., McBrien, M., McManus, S., Montoya-Pelaez, L.F., Moppett, I.K., Parker, M., Porrill, O., Sanders, R.D., Shelton, C., Sieber, F., Trikha, A., Xuebing, X.

Relation: https://nottingham-repository.worktribe.com/output/948367; Anaesthesia; Volume 73; Issue 7; Pagination 863-874; https://nottingham-repository.worktribe.com/file/948367/1/White%20et%20al%20Anaesthesia%20Author%20Final%20Version.pdf

الاتاحة: https://doi.org/10.1111/anae.14225
https://nottingham-repository.worktribe.com/file/948367/1/White%20et%20al%20Anaesthesia%20Author%20Final%20Version.pdf
https://nottingham-repository.worktribe.com/output/948367

المؤلفون: Ewing, D.A., Cobbold, C.A., Purse, B.V., Nunn, M.A., White, S.M.

مصطلحات موضوعية: Ecology and Environment, Mathematics

وصف الملف: text

Relation: https://nora.nerc.ac.uk/id/eprint/513459/1/N513459JA.pdf; Ewing, D.A.; Cobbold, C.A.; Purse, B.V.; Nunn, M.A.; White, S.M. 2016 Modelling the effect of temperature on the seasonal population dynamics of temperate mosquitoes. Journal of Theoretical Biology, 400. 65-79. https://doi.org/10.1016/j.jtbi.2016.04.008

الاتاحة: http://nora.nerc.ac.uk/id/eprint/513459/
https://nora.nerc.ac.uk/id/eprint/513459/1/N513459JA.pdf
https://doi.org/10.1016/j.jtbi.2016.04.008

المؤلفون: Chapman, D.S., White, S.M., Hooftman, D.A.P., Bullock, J.M.

المصدر: EFSA Supporting Publications ; volume 12, issue 4 ; ISSN 2397-8325 2397-8325

الاتاحة: http://dx.doi.org/10.2903/sp.efsa.2015.en-795

المؤلفون: Cavalier, S., Heller, M., Puzo, P., Burkhardt, Hans, White, S.M.

المساهمون: Laboratoire de l'Accélérateur Linéaire (LAL), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), European Organization for Nuclear Research (CERN), CERN Genève, ATLAS

المصدر: Proceedings of the 23rd Particle Accelerator Conference ; Particle Accelerator Conference 2009 (PAC09) ; https://hal.in2p3.fr/in2p3-00392463 ; Particle Accelerator Conference 2009 (PAC09), May 2009, Vancouver, Canada. Triumf Vancouver, pre-press version, pp.WE6PFP036, 2009

مصطلحات موضوعية: [PHYS.PHYS.PHYS-INS-DET]Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], [PHYS.PHYS.PHYS-OPTICS]Physics [physics]/Physics [physics]/Optics [physics.optics]

جغرافية الموضوع: Vancouver

Time: Vancouver, Canada

Relation: in2p3-00392463; https://hal.in2p3.fr/in2p3-00392463; https://hal.in2p3.fr/in2p3-00392463/document; https://hal.in2p3.fr/in2p3-00392463/file/we6pfp036.pdf

الاتاحة: https://hal.in2p3.fr/in2p3-00392463
https://hal.in2p3.fr/in2p3-00392463/document
https://hal.in2p3.fr/in2p3-00392463/file/we6pfp036.pdf

المؤلفون: Apelt, K., White, S.M., Kim, H.S., Yeo, J.E., Kragten, A., Wondergem, A.P., Rooimans, M.A., Gonzalez Prieto, R., Wiegant, W.W., Lunke, S., Flanagan, D., Pantaleo, S., Quinlan, C., Hardikar, W., Attikum, H. van, Vertegaal, A.C.O., Wilson, B.T., Wolthuis, R.M.F., Scharer, O.D., Luijsterburg, M.S.

المصدر: Journal of Experimental Medicine

وصف الملف: application/pdf

Relation: https://rupress.org/jem/article/218/3/e20200622/211590/ERCC1-mutations-impede-DNA-damage-repair-and-cause; lumc-id: 122500217; https://hdl.handle.net/1887/3263777

الاتاحة: https://hdl.handle.net/1887/3263777
https://rupress.org/jem/article/218/3/e20200622/211590/ERCC1-mutations-impede-DNA-damage-repair-and-cause
https://doi.org/10.1084/jem.20200622

المؤلفون: Wilson, M.P., Garanto, A., Pinto E Vairo, F., Ng, B.G., Ranatunga, W.K., Ventouratou, M., Baerenfaenger, M., Huijben, K., Thiel, C., Ashikov, A., Keldermans, L., Souche, E., Vuillaumier-Barrot, S., Dupré, T., Michelakakis, H., Fiumara, A., Pitt, J., White, S.M., Lim, S.C., Gallacher, L., Peters, H., Rymen, D., Witters, P., Ribes, A., Morales-Romero, B., Rodríguez-Palmero, A., Ballhausen, D., de Lonlay, P., Barone, R., Janssen, MCH, Jaeken, J., Freeze, H.H., Matthijs, G., Morava, E., Lefeber, D.J.

المصدر: American journal of human genetics, vol. 108, no. 11, pp. 2130-2144

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Catalytic Domain, Child, Preschool, Congenital Disorders of Glycosylation/genetics, Female, Genes, Dominant, Heterozygote, Hexosyltransferases/chemistry, Hexosyltransferases/genetics, Humans, Male, Membrane Proteins/chemistry, Membrane Proteins/genetics, Middle Aged, Musculoskeletal Diseases/genetics, Nervous System Diseases/genetics, Pedigree, Sequence Homology, Amino Acid, congenital disorders of glycosylation, dominant inheritance, glycosylation, oligosaccharyltransferase complex

Relation: info:eu-repo/semantics/altIdentifier/pmid/34653363; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_BF67CFA624BB

الاتاحة: https://serval.unil.ch/notice/serval:BIB_BF67CFA624BB
https://doi.org/10.1016/j.ajhg.2021.09.012

المؤلفون: Nikkel, S.M. (Sarah), Dauber, A. (Andrew), Munnik, S.A. (Sonja) de, Connolly, M. (Meghan), Hood, R.L. (Rebecca L), Caluseriu, O. (Oana), Hurst, J.A. (Jane), Kini, U. (Usha), Nowaczyk, M.J.M., Afenjar, A. (Alexandra), Albrecht, B., Allanson, J.E. (Judith), Balestri, P. (Paolo), Ben-Omran, T. (Tawfeg), Brancati, F. (Fred), Cordeiro, I. (Isabel), Da Cunha, B.S. (Bruna Santos), Delaney, P.F. (Peter), Destrée, A. (Anne), Fitzpatrick, D.R. (David), Forzano, F. (Francesca), Ghali, N. (Neeti), Gillies, G. (Greta), Harwood, J., Hendriks, Y., Héron, D. (Delphine), Hoischen, A. (Alex), Honey, E.M. (Engela Magdalena), Hoefsloot, E.H. (Lies), Ibrahim, J. (Jennifer), Jacob, C. (Claire), Kant, S.G. (Sarina), Kim, C.A. (Chong), Kirk, E.P. (Edwin P), Knoers, N.V.A.M. (Nine), Lacombe, D. (Denis), Lee, C.Y. (Chung-Yee), Lo, I.F.M. (Ivan F M), Lucas, L.S. (Luiza S), Mari, F. (Francesca), Mericq, V. (Veronica), Moilanen, J.S. (Jukka S), Møller, S.T. (Sanne Traasdahl), Moortgat, S. (Stephanie), Pilz, D.T. (Daniela), Pope, K. (Kate), Price, S. (Susan), Renieri, A. (Alessandra), Sá, J. (Joaquim), Schoots, J. (Jeroen), Silveira, E.L. (Elizabeth L), Simon, M.E.H. (Marleen), Slavotinek, A. (Anne), Temple, I.K., Burgt, I. (Ineke) van der, Vries, B.B.A. (Bert) de, Weisfeld-Adams, J.D. (James D), Whiteford, M.L. (Margo L), Wierczorek, D. (Dagmar), Wit, J.M. (Jan), Yee, C.F.O. (Connie Fung On), Beaulieu, P. (Patrick), White, S.M. (Sue M), Bulman, B., Bongers, E. (Ernie), Brunner, H. (Han), Feingold, M. (Murray), Boycott, K.M. (Kym)

المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1

مصطلحات موضوعية: Floating Harbor syndrome, Phenotype, Short stature, SRCAP

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/60619; urn:hdl:1765/60619

الاتاحة: http://repub.eur.nl/pub/60619
https://doi.org/10.1186/1750-1172-8-63

المؤلفون: Quinlan C., Wardrop L., West K.H., White S.M., Wilkins E., Mallett A.J., Jayasinghe K., Stark Z., Kerr P.G., Gaff C., Martyn M., Whitlam J., Creighton B., Donaldson E., Hunter M., Jarmolowicz A., Johnstone L., Krzesinski E., Lunke S., Lynch E., Nicholls K., Patel C., Prawer Y., Ryan J., See E.J., Talbot A., Trainer A., Tytherleigh R., Valente G., Wallis M.

مصطلحات الفهرس: human, human tissue, infant, kidney biopsy, controlled study, kidney disease/dt [Drug Therapy], major clinical study, male, molecular diagnosis, kidney disease/di [Diagnosis], diagnostic value, disease association, disease surveillance, family study, female, health care facility, renin inhibitor/dt [Drug Therapy], renin inhibitor/pv [Special Situation for Pharmacovigilance], adolescent, adult, article, Australia, child, chronic kidney failure, clinical trial, cohort analysis, monogenic disorder/di [Diagnosis], monogenic disorder/dt [Drug Therapy], multidisciplinary team, prediction, prospective study, tertiary care center, whole exome sequencing, angiotensin antagonist/dt [Drug Therapy], angiotensin antagonist/pv [Special Situation for Pharmacovigilance], cyclosporine/dt [Drug Therapy], cyclosporine/pv [Special Situation for Pharmacovigilance], Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/26525
Genetics in Medicine
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