المؤلفون: P D, Cotter, S, Kaffe, L, Li, I F, Gershin, K, Hirschhorn

المصدر: American journal of medical genetics. 102(1)

مصطلحات موضوعية: Chromosome Aberrations, Family Health, Male, Genotype, Chromosome Mapping, DNA, Telomere, Chromosome Banding, Pedigree, Child, Preschool, Gene Duplication, Karyotyping, Chromosome Inversion, Humans, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, In Situ Hybridization, Fluorescence, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5933a38b57226514f23727050f1d7c68
https://pubmed.ncbi.nlm.nih.gov/11471177

المؤلفون: K, Hirschhorn

المصدر: The Mount Sinai journal of medicine, New York. 65(3)

مصطلحات موضوعية: Informed Consent, Reproductive Techniques, Cloning, Organism, Prenatal Diagnosis, Humans, Female, Public Policy, Genetic Testing, Genetic Therapy, Congenital Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ed7289fec309a2c4c0ffa874e13df0f2
https://pubmed.ncbi.nlm.nih.gov/9615570

المؤلفون: P D, Cotter, S, Kaffe, L D, McCurdy, M, Jhaveri, J P, Willner, K, Hirschhorn

المصدر: American journal of medical genetics. 70(1)

مصطلحات موضوعية: Adult, Chromosomes, Human, Pair 14, Genetic Markers, Male, Polymorphism, Genetic, Chromosome Mapping, Infant, Aneuploidy, Translocation, Genetic, Pedigree, Genomic Imprinting, Prenatal Diagnosis, Humans, Abnormalities, Multiple, Female, Lymphocytes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dff5a48db8c084a9d9bb7a8afc1d2e27
https://pubmed.ncbi.nlm.nih.gov/9129745

المؤلفون: K, Hirschhorn

المصدر: The Mount Sinai journal of medicine, New York. 64(2)

مصطلحات موضوعية: Primary Health Care, Universal Health Insurance, Costs and Cost Analysis, Health Maintenance Organizations, Medicine, Public Policy, Health Services Accessibility, United States, Quality of Health Care, Specialization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c9241742a0eac96d08727d2f249af01d
https://pubmed.ncbi.nlm.nih.gov/9057467

المؤلفون: K, Hirschhorn

المصدر: American journal of human genetics. 58(1)

مصطلحات موضوعية: Societies, Scientific, Genetics, Medical, Awards and Prizes, Humans, History, 20th Century, United States, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bc2f277145eb254a21bb14fa67913ac3
https://pubmed.ncbi.nlm.nih.gov/8554045

المؤلفون: A, Babu, K, Hirschhorn

المصدر: Birth defects original article series. 28(2)

مصطلحات موضوعية: Chromosome Aberrations, Humans, Chromosome Disorders, Sex Chromosome Aberrations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c132d503344ff5217f00e95a583e896f
https://pubmed.ncbi.nlm.nih.gov/1294260

المؤلفون: H. Kehrer-Sawatzki, G. Williams, H. Berninger, O.J. Miller, K. Dreikorn, F. Dechend, M. Kämper, T. Bonk, V. Beensen, N. Mah, S. Balg, S. Jakubiczka, W. Schloot, I. Hansmann, M. Wilda, D. Schindler, K. Lücke, A. Hehr, G. Herzberger, T. Liehr, H.G. Nothwang, A. Bardhan, S. Henschel, A. Dufke, N.A. Ellis, J.S. Heslop-Harrison, S.K. Bohlander, K. Eggermann, M. Gencik, T.M. Dunn, R. Werdin, L. Setterfield, L. Walter, W. Vogel, M.P. Achary, K. Kainer, M. Schmid, S. Kußmann, R. Bendix, C. Nihoul-Feketé, K. Schiebel, W. Engel, S. Avenarius, B. Gharavi, E. Passarge, G. Tariverdian, H.L. Schulz, K. Trenz, D.K. Lamatsch, J. Frowein, P. Schütz, H. Neitzel, M.S. Magid, C. Steinlein, T. Grimm, J. Meder, T. Dörk, M. Fellous, M. Stumm, G. Senger, J.A. Alonzo, M.B. Petersen, H. Enders, M.L. Houck, S. Kümmerle, U. Grumpelt, R. Chaves, W. Mosgoeller, P.E. Warburton, A.T. Kumamoto, B. Schröder, R. Melcher, P.H. Yen, K. Kutsche, J.T. Epplen, C. Kelbova, H.G. Schwarzacher, D. Schlote, M. Döbler-Neumann, P.M. Chou, R. Brauner, F. Jaubert, J. Neesen, M. Proytcheva, B. Eiben, J. German, C. Reuter, J.J. Pasantes, G. Scherer, H. Winking, Y.-F.C. Lau, U. Zechner, V. Kalscheuer, Susumu Ohno, M. Winkelmann, A. Mannan, W. Jaggernauth, E. Reichl, P.S. Burgoyne, E. Glauner, S. Knauf, H. Przuntek, S.G. Somkuti, U. Müller, C. Baldermann, andK. Benirschke, C. Backsch, A. Gehrig, H. Stöhr, H.P. Klinger, M.M. Sanz, S. Fröhlich, M.J. Wakefield, T.O. Goecke, J.C. Iezzoni, C. Dixkens, M. Büsse, C. Althaus, R. Breuer, B. Levy, I. Nanda, A. Epplen, B. Vikram, E. Schnakenberg, P. Miny, R. Toder, L. Salas-Cortés, C. Groß, F. Vogel, P.R. Papenhausen, E.M. Bühler, A. Rump, U. Langenbeck, M. Schöning, W.K. Holloman, M. Schmidt, A. Alfieri, H. Collmann, S.C. Kingswood, K.R. Held, Helmut Baitsch, P. Burfeind, T. Haaf, J.A.M. Graves, E. Gross, S. Ebner, B.H.F. Weber, T. Sharma, K. Sperling, U. Klein-Vogler, J. Seidel, H. Guedes-Pinto, G. Speit, B. Petersen, J. Schmidtke, K. Hirschhorn, A.P. Singh, M. Krawczak, L.G. Kömüves, B. Halliger-Keller, M. Mikkelsen, N.B. Kardon, C. Fischer, W. Krone, J.S. Schinfeld, A. Schinzel, M. Rosemblatt, S.S. Wachtel, W. Kress, A.J. Kersten, C.R. Mueller, C. Saft, W. Schempp, A. Humeny, J.H. Tepperberg, N.B. Atkin, S. Schubert, H.M. Schüler, P. Wieacker, G.A. Rappold, R. von Golitschek, H. Bostelmann, J. Andrich, S. Röttger, P. Kaiser, M. Schartl, H. Hameister, C. Tyler-Smith, S.J. Charter, K. Fredga, E.P. Evans, H. Hoehn, D. Bächner, B. Skawran, U. Mittwoch, A. Rosenthal, A. Gal, S. Fallet, U. Drews, A. Pomarino, E. Günther, T. Schwarzacher, T.O. Schulz, S. Stengel-Rutkowski

المصدر: Cytogenetic and Genome Research. 91:308-309

مصطلحات موضوعية: Genetics, Index (economics), Subject (documents), Biology, Social science, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89974e94ddc464ffe59edfbe3dc465f0
https://doi.org/10.1159/000056864

المؤلفون: E. Glauner, C. Baldermann, A. Bardhan, Susumu Ohno, A. Mannan, C. Althaus, R. Brauner, E. Schnakenberg, K. Hirschhorn, W. Krone, G. Williams, B.H.F. Weber, K. Sperling, G.A. Rappold, K.R. Held, J.S. Schinfeld, J. Seidel, H. Guedes-Pinto, H. Berninger, O.J. Miller, M. Kämper, M.J. Wakefield, H.L. Schulz, W.K. Holloman, M. Schmidt, M. Krawczak, B. Petersen, S. Kußmann, N. Mah, S. Fröhlich, M. Fellous, Helmut Baitsch, M.L. Houck, T. Bonk, D. Bächner, B. Skawran, L.G. Kömüves, J. Andrich, W. Vogel, T.O. Goecke, Y.-F.C. Lau, P.M. Chou, U. Zechner, N.B. Atkin, V. Beensen, D.K. Lamatsch, andK. Benirschke, H.P. Klinger, A. Rosenthal, T. Dörk, A. Gal, R. Melcher, G. Tariverdian, S. Ebner, P.E. Warburton, W. Schloot, P. Miny, C. Kelbova, J. Neesen, C. Reuter, M.S. Magid, K. Lücke, U. Drews, M. Rosemblatt, W. Jaggernauth, S. Knauf, E. Günther, A. Rump, C. Backsch, B. Gharavi, K. Trenz, M. Stumm, M. Wilda, V. Kalscheuer, S. Stengel-Rutkowski, B. Schröder, R. von Golitschek, H. Bostelmann, J. Schmidtke, U. Klein-Vogler, D. Schlote, J.T. Epplen, L. Walter, T. Grimm, S.S. Wachtel, S.C. Kingswood, M.P. Achary, F. Jaubert, H. Przuntek, C. Steinlein, U. Langenbeck, M. Schöning, W. Kress, H. Enders, A. Schinzel, S. Kümmerle, R. Breuer, B. Levy, I. Nanda, C. Nihoul-Feketé, S. Henschel, K. Schiebel, H. Kehrer-Sawatzki, H.G. Nothwang, H. Stöhr, M. Winkelmann, C. Groß, C.R. Mueller, W. Schempp, P. Kaiser, C. Saft, S.G. Somkuti, N.A. Ellis, M. Gencik, F. Vogel, R. Chaves, P. Schütz, P.R. Papenhausen, H. Neitzel, M. Schartl, R. Werdin, A.P. Singh, A. Epplen, G. Senger, J.H. Tepperberg, L. Setterfield, M.M. Sanz, K. Dreikorn, F. Dechend, A.J. Kersten, T. Liehr, M. Schmid, H. Hameister, A. Alfieri, C. Tyler-Smith, A.T. Kumamoto, S.J. Charter, S. Schubert, C. Dixkens, M. Büsse, S. Balg, U. Grumpelt, L. Salas-Cortés, H. Collmann, B. Vikram, K. Fredga, H.M. Schüler, P. Wieacker, A. Humeny, E. Passarge, M.B. Petersen, K. Kainer, G. Herzberger, J. Meder, S. Röttger, H. Hoehn, S. Jakubiczka, T.M. Dunn, B. Halliger-Keller, W. Mosgoeller, R. Bendix, J.S. Heslop-Harrison, S.K. Bohlander, E.P. Evans, E.M. Bühler, I. Hansmann, R. Toder, M. Mikkelsen, K. Kutsche, D. Schindler, P. Burfeind, T. Haaf, J. Frowein, H.G. Schwarzacher, M. Döbler-Neumann, T. Sharma, B. Eiben, P.H. Yen, N.B. Kardon, J. German, M. Proytcheva, H. Winking, G. Speit, G. Scherer, C. Fischer, K. Eggermann, A. Pomarino, A. Hehr, A. Dufke, E. Reichl, W. Engel, S. Avenarius, P.S. Burgoyne, J.A. Alonzo, T. Schwarzacher, A. Gehrig, T.O. Schulz, J.A.M. Graves, E. Gross, U. Müller, J.C. Iezzoni, U. Mittwoch, S. Fallet, J.J. Pasantes

المصدر: Cytogenetic and Genome Research. 91:310-311

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::865bd151f37551cde267ef49a2033538
https://doi.org/10.1159/000056865

المؤلفون: B.J. Morris, R.T. Mulcahy, T. Taguchi, M. Nadal, M.Q. Islam, M.J. Ha, J. Scalzi-Martin, F. Nagai, C. Steinlein, P.A. Ioannou, Y. Endo, J. Weimer, L. Carim, R. Jiménez, J.F. Gui, J.Y. Le Gall, S. Aytay, A. Le Treut, J. Szpirer, R.J. Leach, Y. Zhao, K.P. Fung, S.K.W. Tsui, O. Cremona, D.J. Gilbert, O. Jaillon, C. Ozouf-Costaz, Y. Remache, S. Yoshida, C. Fischer, B. Peral, M. Burgos, N. Inoue, S. Minvielle, N. Berger, K. L. Puschus, A. Goy, A. Kovacic, K. Ilc, A.D. Bi, B. Dupont, R. Gong, L. Yin, T. Faraut, R. Díaz de la Guardia, A. Sánchez, S. Denis, A.C. Clase, P. Amati, L.L. Hansen, A.U. Christoff, J. Yang, P. Bray-Ward, L.D.S. Kok, J. Yoon, G. Calabrese, L. Sumoy, S.S. Siu, Y. Yonenaga-Yassuda, F.J. Lovicu, J. Demongeot, H.S. Kooistra, M. Breen, A.D. Zelenetz, L. Zhou, O. Cohen, S. Shiosaka, M.-A. Mermet, C. Szpirer, J.J. Gipp, M. Harada, Melissa C. Liechty, P. van Vooren, B.L. Barnoski, Y. Wang, W. Feichtinger, S. Cuccato, K. Fukasawa, G. Romeo, R. Giannini, M. Schmid, H. Tamura, H. Satoh, B.K. Hall, K. Gardiner, P De Camilli, J.-F. Laes, M.M. Chen, K. Islam, S. Zhao, B. Levy, N. Arnold, T. Mitsuya, M. Ravoet, W. Kim, T. Werner, A. Hirata, D.C. Ward, Y. Jacques, L van der Weyden, H. Roest Crollius, M. Escarceller, R. Corvi, C. Renier, M. Kiechle, C. Henry, A. Solans, T.M. Dunn, D.J. Adams, J. Justesen, A. Tosolini, H. Zhang, S.V. Reddy, H. Lührs, P. Miccoli, C.A. Moreira-Filho, V. Fagundes, K.E. McVeigh, G. Palka, F. Basolo, B.A. van Oost, C. Dasilva, Y.M. Lee, J.J. Mallee, E. Moon, F. Gilles, G.D. Roodman, L. Bouneau, R. Schaub, B. Toutain, M.L. Little, M. Bullejos, D.W. Cox, S.S. Murthy, L. Guenet, N.A. Jenkins, John Hozier, R. Cinti, S.D.P. Moore, I.S. Lantinga-van Leeuwen, A. Bernot, S. Wu, H.J. Kim, M.M.Y. Waye, L. Stuppia, R. Mural, J.A. Mol, C.R. Müller, F. Magrangeas, T. Menzel, G. Tate, F. Apiou, S. de la Luna, W. Scheppach, G. Torre, M. Gratacòs, G.T. Berry, L. Yu, S.-Y. Zhao, M. Matsui, C. Dubourg, J.R. Testa, C. Haffner, J. Weissenbach, A. Lucente, N. Kardon, X. Quan, R. Jørgensen, U. Weidle, C. M. Carpio, K.M. Fukasawa, V. David, A. Pizzuti, Q. Tu, N.G. Copeland, C. Bonillo, X. Estivill, M. Nimmakayalu, V. Gatta, R. Melcher, C.Y. Lee, J.C. Hozier, M.A. Pujana, J.E. Wiley, I. Fogh, A. Ratti, K. Hirschhorn, Y. Xu

المصدر: Cytogenetic and Genome Research. 88:168-169

مصطلحات موضوعية: Genetics, Biology, Molecular Biology, Genetics (clinical), Classics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e57722eaa0a9d3121a81978bd72fb600
https://doi.org/10.1159/000015512

المؤلفون: K Hirschhorn, E Sujansky, R E Zinberg, Edward R B Mccabe, L D Fleisher, Barry H. Thompson, L Godmilow, Reed E. Pyeritz, M J McGinniss, R R Howell, M Z Pelias, Aubrey Milunsky, R R Lebel

المصدر: Genetics in Medicine. 1:171-172

مصطلحات موضوعية: Duty to Recontact, medicine.diagnostic_test, media_common.quotation_subject, MEDLINE, Disclosure, Professional-Patient Relations, medicine.disease, Genetics, medicine, Humans, Ethics, Medical, Genetic Testing, Medical emergency, Psychology, Duty, Genetics (clinical), Genetic testing, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18fcd953c40a271ddc04657872461f5
https://doi.org/10.1097/00125817-199905000-00010