Zobrazeno 1 - 10 of 497 pro vyhledávání: '"V.A. McKusick"'
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Cataloging genetic diseases and mapping the genes on chromosomes
Autor: V.A. McKusick
Publikováno v: The Seventh Annual Symposium on Computer Applications in Medical Care, 1983. Proceedings..
Over a period of more than twenty years, we have assembled a catalog of known genetic traits of man which exists as a computer database and is published in the form of a handbook every few years [1]. For the last few years, work has been in progress
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3fb5e11f6dfba3530ee689d89369f0e3
https://doi.org/10.1109/scamc.1983.764709
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3
A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy
Autor: H.C Hopf, Hans-Hilmar Goebel, Merrill D. Benson, T. Uemichi, S Seddigh, V.A McKusick
Publikováno v: Neuromuscular Disorders. 7:229-230
1. IntroductionMore than 50 mutations of the transthyretin (TTR) [1]molecule resulting in different clinical forms of amyloidosisincluding familial amyloid polyneuropathy (FAP) havebeen reported to date. Within this FAP spectrum severaltransthyretin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85d3e48d7bd145a2cdec1870dac248a
https://doi.org/10.1016/s0960-8966(97)00446-x
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4
Contents, Vol. 22, 1978
Autor: N.E. Morton, P. Pierce, K. Simola, C.E. Wright, E.J. Yunis, M.E. Chandler, H. Vriesendorp, B.J.B. Keats, C.J. Sherr, K. Bender, R.E. Magenis, H. Oie, B.B. Knowles, J.M. Luciani, M.P. Cowmeadow, I.L. Hansteen, M. Bobrow, G.A. Koch, M. Prensky, P.A. Lalley, N. Shimizu, E.A. Nichols, J. Garver, K. Hirschhorn, A. Brøgger, A.F. Gazdar, S. Hempfling, L.C. Yu, B. Pernis, R. Mausner, S. Leupe-de Smit, R.C.P. Go, A. Westerveld, L. R. Weitkamp, K.E. Toomey, D. Borgaonkar, S. Piomelli, D. Bootsma, T. Campana, E.W. Lovrien, O.J. Miller, H.J. Cooke, F.T. Kao, D.A. Aitken, S. Burgess, L.L. Haley, Y. Boyd, A. Mayerová, T.B. Shows, H.J. Evans, J. Fraisse, K.-H. Grzeschik, V.M. Regina, K.C. Atwood, L.M.M. Wijnen, Liao Law, H.-H. Ropers, M.A. Ferguson-Smith, M.A. Pellegrino, T. Gedde-Dahl, V.A. McKusick, A.C. Leary, J. H. Olving, M.G. Byers, D. Swallow, K.M. Overton, W.F. Witterland, J. Hemmerling, S.J. Funderburk, A. de la Chapelle, N.R. Mendell, U. Francke, Veronica van Heyningen, A.F. Naylor, I.W. Craig, A. Heiberg, R.S. Lemons, J.E. Gray, E. Herbschleb-Voogt, J.J. Yunis, D.B. Amos, C.K. Eun, J.L. Hamerton, L. U. Lamm, N. Oliver, S. Goodnight, F. Pellett, T.M. Dijksman, J.M. Vance, R.E. Eisenman, P. Rubinstein, A. Bratlie, G.A.P. Bruns, V. Kirton, R. Roos, D.L. Slate, M.C. Yoshida, D.L. George, R.C. Schwartz, K.E. Buckton, A.S. Henderson, R. Jonassen, J.A. Robinson, P.L. Pearson, M. Hultén, E. Solomon, A.E. Greene, L.Y. Wang, R. Lange, S. Brown, M.L. Schroeder, P. Karli, A. Krüger, J.M. Robert, B. Lauras, J. Chamberlin, A. Shalev, J. Ott, B.J. Mintz, Elizabeth B. Robson, Per Teisberg, N. Tanigaki, P. M. Conneally, S. Rosenfeld, A.S. Baim, M.L. Rivas, J.A. Brown, R. Johannsmann, N. Suciu-Foca, R. Mierau, T.T. Puck, C.G. Palmer, S.J. Jeremiah, D. Warburton, M. Devictor-Vuillet, J.A. Norton, T. Ho, J.E. Noades, F. Varricchio, E.H.Y. Chu, B. Carritt, R. Schwab, I. Balazs, J. Reiss, C.N. Fear, S. Povey, Erik Thorsby, A. Siverts, D.W. Ball, W. Stanley, L.R. Weitkamp, M.E. Duncan, C. Jones, K. Willecke, S. Philipps, R. Moreland, D.C. Rao, E. Tolley, T. Philip, E. Johnston, M. Monteba-van Heuvel, A.D. Merritt, T.H. Roderick, R.L. Eddy, S. Arias, R.A. Fisher, M.A. Craft, J.H. Edwards, M.C. Sparkes, N.C. Sun, L. Korsnes, D.A. Meyers, M.Y. Tsai, A.W. Johnston, A. Estop, B.M. Turner, K. Berg, S. Guttormsen, W.G. Burgerhout, A.P. Goggin, T. Mohandas, W.K. Stanford, C.W. Bazinet, M. Siniscalco, R.H. Lindenbaum, H.P. Klinger, W.S. Volkers, J. Gavin, K.K. Namboodiri, M.T. Davisson, P.J. McAlpine, W.R.T. Los, M. Meisler, L.J. Donald, F.H. Ruddle, W. Bauch, Timothy A. Donlon, C.R.Y. Sun, R. Bigley, R.S. Sparkes, H. Kaita, P.S. Gerald, E.R. Giblett, I. Berczi, R.C. Elston, S.J. O’Brien, C.T. Falk, L. Scrafford-Wolff, M. Smith, M.K. Fagerhol, J. de Witt, S. Rowe, D. Cox, E.S. Seravalli, T. Borun, M. Lewis, R. Saisson, M.A. Pericak-Vance, R.T. Taggart, R.D.G. McKay, M. Mota, W. R. Mayr, Matthew Parks, F. Freycon, Y. Shimizu, B. Hellkuhl, D.P. Aden, C.A. Slaughter, J.E. Anderson, E. Lovrien, R.M. Denney, N. Lamvik, J. Parekh, B.P. Dorman, A.P.M. Jongsma, M.A. Nijman, C. Verma, J. Wood, M.J. Champion, R. Sanger, A. Bennick, P.L. Yu, A.F. Wilson, W.L. Marsh, L. Pajunen, H. Hameister, B.A. Doppert, J.J. Garver, J.R. Sawyer, P. Meera Khan, P.J.L. Cook, Bjørnar Olaisen, R.C. Karn, J.D. Minna, J.D. Shulkin, B.M. Page, P.M. Sinet, B. Sykes, E.M. Helveston, C.W.H. Partridge, M. Blumenthal, P. Szabo, E.A. Azen
Publikováno v: Cytogenetic and Genome Research. 22:I-XIV
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::06ac8262c88a2c86e66a1a3c708f6e96
https://doi.org/10.1159/000130915
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Contents, Vol. 14, 1975
Autor: T. Gedde-Dahl, P.M Conneally, G.R. Douglas, J. Prosser, E. Grace, J.L. Hamerton, K.-H. Grzeschik, M.A. Ferguson-Smith, P.L. Pearson, G. Corneo, E.A. Nichols, G.J. Wullems, M. Bobrow, N.C. Sun, J.E. Syrett, J.K. McDougall, R. Rebourcet, J. Frézal, V.A. McKusick, F.H. Ruddle, W. Keijzer, A. Westerveld, T.G. Gedde-Dahl, R.M. Baker, R.C. Miller, F. Hecht, P. Goodfellow, B. Olaisen, J. Ott, A.J.J. Reuser, A. Vust, C.W.H. Partridge, D.R. Bolling, J. Fleming, S.E. Gardiner, P.J. McAlpine, D.M. Steffensen, E.R. Giblett, D. Kacian, E.M. Wurzer-Figurelli, R.S. Kucherlapati, T.B. Shows, K. Berg, H. Bosker, K.C. Atwood, M.C. Rattazzi, D.W. Buck, K.W. Jones, A.G.J.M. van der Linden, R.P. Clayton, J. German, W. Prensky, V. Niewczas-Late, D. Bergsma, C.M. Giles, D.A. Meyers, E.M. Eicher, D.S. Borgaonkar, D. Mutton, K.P. Glen, P.M. Ellis, K. Hirschhorn, E. Jones, S. Povey, A. Hoogeveen, J. van der Horst, J.J. van Rood, P.M. Price, B. Bengtsson, W.G. Burgerhout, C.C. Chang, L.R. Weitkamp, R.E. Giles, E. Magenis, H. van Someren, H.M.A. Beyersbergen van Henegouwen, R.A. Buckland, K. Willecke, U. Francke, D. Bootsma, C. Partridge, R. Kennett, E. Johnston, D.A. Hopkinson, A.E. Greene, O. Mutchinick, R.P. Creagan, R.S.K. Chaganti, L. Komarnicki, T. Mohandas, M. Fellous, K. Fenger, J.H. Edwards, G. Beckman, A.S. Henderson, M.L. Rivas, L. Beckman, W.R.T. Los, L.L. Coriell, I. Purdom, N. van Cong, P. Meera Khan, H.A. de Wit-Verbeek, G.B. Côté, A.R. Mitchell, Veronica van Heyningen, S.A. Sørensen, L. Wang, E. Solomon, J.A. Brown, W.S. Volkers, H. Galjaard, J.E. Anderson, C. Pangalos, A.P.M. Jongsma, R. Sanger, S.M. Elsevier, E. Lovrien, A.B. Bijnen, M.K. Fagerhol, J.A. Pierce, M. Lewis, E.H.Y. Chu, W.B. Bias, D. Weil, S. Chen, J. de Wit, C.G. Palmer, P.W. Teesdale, F.A. McMorris, G. Miller, A.D. Merritt, R.G. Davidson, J.R. Gosden, I. Schreuder, W.F. Bodmer, P.J.L. Cook, J.E. Gray, N. Busby, H. Kaita, R.C. Elston, Y.-S. Teng, S.M. Bowser Riley, R.A. Oosterbaan, P.L. Townes, E.B. Robson, H.J. Evans, L.E. Nijenhuis, A. Hagemeijer
Publikováno v: Cytogenetic and Genome Research. 14:I-VIII
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b83bbb1b5639cd4993a0240096387a0e
https://doi.org/10.1159/000130338
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Subject Index Vol. 22, 1978
Autor: S.J. Funderburk, J.E. Gray, G.A. Koch, L. Korsnes, A.S. Henderson, W.R.T. Los, D.A. Meyers, J.D. Minna, Per Teisberg, J.D. Shulkin, B.M. Page, M.C. Yoshida, K.E. Buckton, M.C. Sparkes, A.P. Goggin, M.L. Rivas, P.S. Gerald, K. Simola, C.E. Wright, W.K. Stanford, J.A. Brown, R.C.P. Go, L. Scrafford-Wolff, P.M. Sinet, D.C. Rao, E.J. Yunis, A. Westerveld, L. R. Weitkamp, B. Sykes, M. Bobrow, N. Oliver, H.-H. Ropers, M.A. Ferguson-Smith, D. Borgaonkar, S. Piomelli, D. Bootsma, C.W. Bazinet, A.F. Wilson, H. Hameister, P.J.L. Cook, E. Herbschleb-Voogt, J.J. Yunis, P. Szabo, S. Philipps, W. R. Mayr, T.B. Shows, E.A. Azen, R.C. Schwartz, J.M. Vance, S. Leupe-de Smit, D. Swallow, A.C. Leary, Bjørnar Olaisen, R.C. Karn, Y. Shimizu, B.J.B. Keats, E. Solomon, M.L. Schroeder, T. Gedde-Dahl, O.J. Miller, V. Kirton, J. H. Olving, S. Brown, R. Roos, D. Cox, F. Pellett, L.Y. Wang, Timothy A. Donlon, R.E. Magenis, E.M. Helveston, N.C. Sun, A. de la Chapelle, J.M. Luciani, A. Heiberg, R.S. Lemons, D.L. George, C.R.Y. Sun, R.D.G. McKay, R.M. Denney, N. Lamvik, A.S. Baim, R. Schwab, I. Balazs, N.E. Morton, L. Pajunen, M. Blumenthal, J.R. Sawyer, Elizabeth B. Robson, R.E. Eisenman, M. Prensky, P.A. Lalley, K.M. Overton, T.M. Dijksman, L.C. Yu, J.A. Robinson, L.M.M. Wijnen, H. Kaita, R.C. Elston, S.J. O’Brien, J. Garver, M.A. Nijman, M. Monteba-van Heuvel, P.L. Pearson, S. Povey, Erik Thorsby, B. Lauras, P. M. Conneally, V.A. McKusick, E. Tolley, K. Willecke, A.D. Merritt, R. Moreland, P. Meera Khan, P. Pierce, T.H. Roderick, M.Y. Tsai, R. Johannsmann, T. Campana, A. Brøgger, E.W. Lovrien, R.L. Eddy, N. Suciu-Foca, C.G. Palmer, C. Jones, A.F. Gazdar, A. Shalev, M.K. Fagerhol, E. Johnston, J. Reiss, C.N. Fear, S. Burgess, L.L. Haley, S. Hempfling, W.S. Volkers, J. Gavin, Liao Law, Y. Boyd, A. Mayerová, J.H. Edwards, M.G. Byers, W. Stanley, L.R. Weitkamp, M.E. Duncan, H.J. Evans, L.J. Donald, B. Hellkuhl, F.H. Ruddle, I.L. Hansteen, B.M. Turner, I.W. Craig, K.-H. Grzeschik, T. Mohandas, A. Siverts, D.W. Ball, K.C. Atwood, R. Bigley, L. U. Lamm, R.S. Sparkes, M. Siniscalco, S. Arias, R.A. Fisher, M. Mota, E.R. Giblett, C.T. Falk, S. Guttormsen, N.R. Mendell, K. Hirschhorn, M. Smith, H. Oie, M.P. Cowmeadow, F.T. Kao, J. de Witt, N. Shimizu, E.A. Nichols, E.S. Seravalli, D.A. Aitken, R. Mausner, M. Hultén, M. Lewis, R. Saisson, A. Bratlie, A.E. Greene, P. Karli, J. Chamberlin, M.T. Davisson, P.J. McAlpine, C.W.H. Partridge, I. Berczi, W.F. Witterland, Veronica van Heyningen, B.P. Dorman, A.P.M. Jongsma, P. Rubinstein, B.B. Knowles, C. Verma, J. Wood, M.J. Champion, B. Pernis, R. Sanger, K.E. Toomey, A. Bennick, P.L. Yu, W.L. Marsh, V.M. Regina, B.A. Doppert, J.J. Garver, U. Francke, J. Fraisse, M.E. Chandler, G.A.P. Bruns, H. Vriesendorp, S. Rowe, A. Krüger, J.M. Robert, B.J. Mintz, K. Bender, R. Lange, T. Borun, J.A. Norton, T. Ho, J.E. Noades, M.A. Pericak-Vance, R.T. Taggart, N. Tanigaki, M.A. Craft, K. Berg, Matthew Parks, F. Freycon, D.P. Aden, C.A. Slaughter, H.J. Cooke, J.E. Anderson, E. Lovrien, A.W. Johnston, A. Estop, J. Parekh, W.G. Burgerhout, M.A. Pellegrino, J. Hemmerling, A.F. Naylor, J.L. Hamerton, S. Goodnight, D.B. Amos, C.K. Eun, D.L. Slate, R. Jonassen, J. Ott, R. Mierau, T.T. Puck, D. Warburton, M. Devictor-Vuillet, C.J. Sherr, R.H. Lindenbaum, H.P. Klinger, K.K. Namboodiri, M. Meisler, S. Rosenfeld, F. Varricchio, E.H.Y. Chu, B. Carritt, T. Philip, W. Bauch, S.J. Jeremiah
Publikováno v: Cytogenetic and Genome Research. 22:727-730
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f56223ed5a056c5f7bc669d0a7d22815
https://doi.org/10.1159/000131063
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7
References to the committee reports
Autor: L.R. Weitkamp, J.E. Anderson, F.A. McMorris, L. Komarnicki, O. Mutchinick, S.M. Elsevier, T. Mohandas, J.L. Hamerton, G. Miller, J.R. Gosden, E. Lovrien, D.R. Bolling, J. Fleming, H.J. Evans, G.J. Wullems, J. Prosser, N.C. Sun, H. Bosker, K.C. Atwood, W. Keijzer, H.M.A. Beyersbergen van Henegouwen, A.B. Bijnen, M.K. Fagerhol, J. Ott, J. van der Horst, E. Grace, C.W.H. Partridge, R.C. Miller, Y.-S. Teng, P.J. McAlpine, J.E. Gray, J. de Wit, H. van Someren, K. Willecke, K. Hirschhorn, V. Niewczas-Late, T.B. Shows, D.A. Hopkinson, A.E. Greene, L. Beckman, J.A. Pierce, H.A. de Wit-Verbeek, P.W. Teesdale, R. Kennett, E. Johnston, R.E. Giles, G.B. Côté, P.L. Pearson, E. Magenis, A.G.J.M. van der Linden, M. Bobrow, V.A. McKusick, N. van Cong, J.H. Edwards, A.D. Merritt, P. Meera Khan, R.G. Davidson, P.L. Townes, I. Schreuder, S.A. Sørensen, K.W. Jones, J. Frézal, M.L. Rivas, E.B. Robson, D. Weil, A. Hoogeveen, R.A. Buckland, J.J. van Rood, K.-H. Grzeschik, E. Jones, E.A. Nichols, W.F. Bodmer, P.J.L. Cook, D.S. Borgaonkar, L. Wang, E. Solomon, B. Olaisen, K. Fenger, A.S. Henderson, A.J.J. Reuser, A. Vust, G. Beckman, E.M. Wurzer-Figurelli, J.E. Syrett, W.G. Burgerhout, C.C. Chang, D. Kacian, Veronica van Heyningen, S.E. Gardiner, A.R. Mitchell, W.B. Bias, C.M. Giles, S. Chen, F. Hecht, J.A. Brown, N. Busby, H. Kaita, C.G. Palmer, D.A. Meyers, R.C. Elston, T.G. Gedde-Dahl, R.M. Baker, A.P.M. Jongsma, K. Berg, R.S. Kucherlapati, L.E. Nijenhuis, I. Purdom, R. Sanger, R.P. Clayton, U. Francke, J.K. McDougall, J. German, P.M. Ellis, S.M. Bowser Riley, P.M. Price, M. Lewis, S. Povey, E.H.Y. Chu, R.A. Oosterbaan, L.L. Coriell, P. Goodfellow, D. Mutton, K.P. Glen, C. Partridge, R.S.K. Chaganti, D. Bootsma, M. Fellous, W. Prensky, W.R.T. Los, D.M. Steffensen, G. Corneo, D.W. Buck, E.M. Eicher, A. Westerveld, B. Bengtsson, M.C. Rattazzi, F.H. Ruddle, E.R. Giblett, W.S. Volkers, R.P. Creagan, T. Gedde-Dahl, P.M Conneally, G.R. Douglas, M.A. Ferguson-Smith, H. Galjaard, C. Pangalos, R. Rebourcet, D. Bergsma, A. Hagemeijer
Publikováno v: Cytogenetic and Genome Research. 14:213-228
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::186659170e6a181f7a62ce6fd6432519
https://doi.org/10.1159/000130349
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