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1دورية أكاديمية
المؤلفون: Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R., Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Barelle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, P.M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L. Gomes, Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Proctor, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E.
وصف الملف: text
العلاقة: http://eprints.gla.ac.uk/211991/1/211991.pdfTest; Aitken, S. et al. (2019) Finding diagnostically useful patterns in quantitative phenotypic data. American Journal of Human Genetics , 105(5), pp. 933-946. (doi:10.1016/j.ajhg.2019.09.015 ) (PMID:31607427)
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2دورية أكاديمية
المؤلفون: Wakeling, E. (Emma), Brioude, F. (Frédéric), Lokulo-Sodipe, O. (Oluwakemi), O'Connell, S.M. (Susan M.), Salem, J. (Jennifer), Bliek, J. (Jet), Canton, A.P.M. (Ana P. M.), Chrzanowska, K.H. (Krystyna), Davies, J.H. (Justin H.), Dias, R.P. (Renuka), Dubern, B. (Béatrice), Elbracht, M. (Miriam), Giabicani, E. (Eloise), Grimberg, A., Grønskov, K. (Karen), Hokken-Koelega, A.C.S. (Anita), Jorge, A. (Alexander), Kagami, M. (Masayo), Linglart, A. (Agnes), Maghnie, M. (Mohamad), Mohnike, K. (Klaus), Monk, A.B. (Alastair), Moore, G.E. (Gudrun E.), Murray, P.G. (Philip G.), Ogata, T. (Tsutomu), Petit, I.O. (Isabelle Oliver), Russo, S. (Sascha), Said, E. (Edith), Toumba, M. (Meropi), Tümer, Z., Binder, G. (Gerhard), Eggermann, T. (Thomas), Harbison, M.D. (Madeleine D.), Temple, I.K., Mackay, D.M. (Deborah), Netchine, I. (Irène)
المصدر: Nature Reviews Endocrinology vol. 13 no. 2, pp. 105-124
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/108227Test; urn:hdl:1765/108227
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3دورية أكاديمية
المؤلفون: Wakeling, E., Brioude, F., Lokulo-Sodipe, K., O'Connell, S.M., Salem, J., Bliek, J., Canton, A., Chrzanowska, K.H., Davies, J.H., Dias, R., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Groenskov, K., Hokken-Koelega, A., Jorge, A.A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G., Murray, P.G., Ogata, T., Oliver Petit, I., Russo, S., Said, E., Toumba, M., Tumer, Z., Binder, G., Eggermann, T., Harbison, M.D., Temple, I.K., Mackay, D.J.G., Netchine, I.
وصف الملف: text; slideshow
العلاقة: https://eprints.soton.ac.uk/399468/1/R%2520SRS%2520paper%252006.06.16%2520for%2520conversion.docxTest; https://eprints.soton.ac.uk/399468/2/R%2520Final%2520draft-%2520Figures%2520%252006.06.16.pptxTest; https://eprints.soton.ac.uk/399468/3/R%2520Final%2520draft-%2520Supp%2520table%25201%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/4/R%2520Final%2520draft-%2520Supp%2520Table%25202%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/5/R%2520Final%2520draft-%2520Supp%2520Table%25203%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/6/R%2520Final%2520draft-%2520Supp%2520Table%25204%252006.06.16.docxTest; https://eprints.soton.ac.uk/399468/7/R%2520Final%2520draft-%2520Supplementary%2520information-%2520summary%2520of%2520recommendations%252006.06.2016.docxTest; https://eprints.soton.ac.uk/399468/8/nrendo.2016.138.pdfTest; Wakeling, E., Brioude, F., Lokulo-Sodipe, K., O'Connell, S.M., Salem, J., Bliek, J., Canton, A., Chrzanowska, K.H., Davies, J.H., Dias, R., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Groenskov, K., Hokken-Koelega, A., Jorge, A.A., Kagami, M., Linglart, A., Maghnie, M., Mohnike, K., Monk, D., Moore, G., Murray, P.G., Ogata, T., Oliver Petit, I., Russo, S., Said, E., Toumba, M., Tumer, Z., Binder, G., Eggermann, T., Harbison, M.D., Temple, I.K., Mackay, D.J.G. and Netchine, I. (2017) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13 (2), 105-124. (doi:10.1038/nrendo.2016.138 ).
الإتاحة: https://doi.org/10.1038/nrendo.2016.138Test
https://eprints.soton.ac.uk/399468Test/
https://eprints.soton.ac.uk/399468/1/R%2520SRS%2520paper%252006.06.16%2520for%2520conversion.docxTest
https://eprints.soton.ac.uk/399468/2/R%2520Final%2520draft-%2520Figures%2520%252006.06.16.pptxTest
https://eprints.soton.ac.uk/399468/3/R%2520Final%2520draft-%2520Supp%2520table%25201%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/4/R%2520Final%2520draft-%2520Supp%2520Table%25202%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/5/R%2520Final%2520draft-%2520Supp%2520Table%25203%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/6/R%2520Final%2520draft-%2520Supp%2520Table%25204%252006.06.16.docxTest
https://eprints.soton.ac.uk/399468/7/R%2520Final%2520draft-%2520Supplementary%2520information-%2520summary%2520of%2520recommendations%252006.06.2016.docxTest
https://eprints.soton.ac.uk/399468/8/nrendo.2016.138.pdfTest -
4دورية أكاديمية
المؤلفون: McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F., FitzPatrick, D.R.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docxTest; https://eprints.soton.ac.uk/392037/2/1_s2.0_S0002929716300532_main.pdfTest; McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F. and FitzPatrick, D.R. (2016) A restricted repertoire of De Novo Mutations in ITPR1 cause Gillespie Syndrome with evidence for dominant negative effect. The American Journal of Human Genetics, 98 (5), 981-992. (doi:10.1016/j.ajhg.2016.03.018 ).
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5دورية أكاديمية
المؤلفون: Bak, M., Boonen, S.E., Dahl, C., Hahnemann, J.M.D., Mackay, D.J.D.G., Tumer, Z., Gronskov, K., Temple, I.K., Guldberg, P., Tommerup, N.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/391976/1/ZFP57_manuscript_with_figures.pdfTest; https://eprints.soton.ac.uk/391976/2/art%25253A10.1186%25252Fs12881-016-0292-4.pdfTest; Bak, M., Boonen, S.E., Dahl, C., Hahnemann, J.M.D., Mackay, D.J.D.G., Tumer, Z., Gronskov, K., Temple, I.K., Guldberg, P. and Tommerup, N. (2016) Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. BMC Medical Genetics, 17 (29), 1-8. (doi:10.1186/s12881-016-0292-4 ). (PMID:27075368 )
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6دورية أكاديمية
المؤلفون: Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Gomes Pereira, S.L., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M. J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/373093/1/248054_2_merged_1409156614.pdfTest; Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Gomes Pereira, S.L., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M. J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C. and Hurles, M.E. (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519 (7542), 223-228. (doi:10.1038/nature14135 ). (PMID:25533962 )
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7دورية أكاديمية
المؤلفون: Gordon, C.T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T.Y., Munnich, A., Pennacchio, L.A., Abadie, V., Temple, I.K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D.A., Visel, A., Lyonnet, S.
المصدر: Human Mutation, vol. 35, no. 8, pp. 1011-1020
مصطلحات موضوعية: SOX9, craniofacial, enhancer, Pierre Robin, long-range regulation, campomelic dysplasia
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24934569; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9CED07B2960E3; https://serval.unil.ch/notice/serval:BIB_9CED07B2960ETest; urn:issn:1059-7794; https://serval.unil.ch/resource/serval:BIB_9CED07B2960E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9CED07B2960E3Test
الإتاحة: https://doi.org/10.1002/humu.22606Test
https://serval.unil.ch/notice/serval:BIB_9CED07B2960ETest
https://serval.unil.ch/resource/serval:BIB_9CED07B2960E.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9CED07B2960E3Test -
8دورية أكاديمية
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
العلاقة: http://repub.eur.nl/pub/60619Test; urn:hdl:1765/60619
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9دورية أكاديمية
المؤلفون: Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.
المصدر: Molecular Syndromology ; volume 2, issue 2, page 76-80 ; ISSN 1661-8769 1661-8777
مصطلحات موضوعية: Genetics (clinical), Genetics
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10دورية أكاديمية
المؤلفون: Douglas, A.G.L., Rafferty, H., Hodgkins, P., Nagra, A., Foulds, N.C., Morgan, M., Temple, I.K.
المصدر: Molecular Syndromology ; volume 1, issue 2, page 82-86 ; ISSN 1661-8769 1661-8777
مصطلحات موضوعية: Genetics (clinical), Genetics
