المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.

المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

وصف الملف: application/octet-stream

Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123

الاتاحة: https://hdl.handle.net/20.500.12210/84123

المؤلفون: Cordovado, A., Schaettin, M., Jeanne, M., Panasenkava, V., Denomme-Pichon, A. -S., Keren, B., Mignot, C., Doco-Fenzy, M., Rodan, L., Ramsey, K., Narayanan, V., Jones, J. R., Prijoles, E. J., Mitchell, W. G., Ozmore, J. R., Juliette, K., Torti, E., Normand, E. A., Granger, L., Petersen, A. K., Au, M. G., Matheny, J. P., Phornphutkul, C., Chambers, M. -K., Fernandez-Ramos, J. -A., Lopez-Laso, E., Kruer, M. C., Bakhtiari, S., Zollino, Marcella, Morleo, M., Marangi, Giuseppe, Mei, D., Pisano, T., Guerrini, R., Louie, R. J., Childers, A., Everman, D. B., Isidor, B., Audebert-Bellanger, S., Odent, S., Bonneau, D., Gilbert-Dussardier, B., Redon, R., Bezieau, S., Laumonnier, F., Stoeckli, E. T., Toutain, A., Vuillaume, M. -L., Zollino M. (ORCID:0000-0003-4871-9519), Marangi G. (ORCID:0000-0002-6898-8882)

مصطلحات الفهرس: SEMA6B, Intellectual disability, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/232271
info:eu-repo/semantics/altIdentifier/pmid/35604360
info:eu-repo/semantics/altIdentifier/wos/WOS:000814818300001
volume:31
issue:19
firstpage:3325
lastpage:3340
numberofpages:16
issueyear:2022
journal:HUMAN MOLECULAR GENETICS ONLINE

المؤلفون: Rodriguez-Palmero A., Boerrigter M. M., Gomez-Andres D., Aldinger K. A., Marcos-Alcalde I., Popp B., Everman D. B., Lovgren A. K., Arpin S., Bahrambeigi V., Beunders G., Bisgaard A. -M., Bjerregaard V. A., Bruel A. -L., Challman T. D., Cogne B., Coubes C., de Man S. A., Denomme-Pichon A. -S., Dye T. J., Elmslie F., Feuk L., Garcia-Minaur S., Gertler T., Giorgio E., Gruchy N., Haack T. B., Haldeman-Englert C. R., Haukanes B. I., Hoyer J., Hurst A. C. E., Isidor B., Soller M. J., Kushary S., Kvarnung M., Landau Y. E., Leppig K. A., Lindstrand A., Kleinendorst L., MacKenzie A., Mandrile G., Mendelsohn B. A., Moghadasi S., Morton J. E., Moutton S., Muller A. J., O'Leary M., Pacio-Miguez M., Palomares-Bralo M., Parikh S., Pfundt R., Pode-Shakked B., Rauch A., Repnikova E., Revah-Politi A., Ross M. J., Ruivenkamp C. A. L., Sarrazin E., Savatt J. M., Schluter A., Schonewolf-Greulich B., Shad Z., Shaw-Smith C., Shieh J. T., Shohat M., Spranger S., Thiese H., Mau-Them F. T., van Bon B., van de Burgt I., van de Laar I. M. B. H., van Drie E., van Haelst M. M., van Ravenswaaij-Arts C. M., Verdura E., Vitobello A., Waldmuller S., Whiting S., Zweier C., Prada C. E., de Vries B. B. A., Dobyns W. B., Reiter S. F., Gomez-Puertas P., Pujol A., Tumer Z.

المساهمون: Rodriguez-Palmero, A., Boerrigter, M. M., Gomez-Andres, D., Aldinger, K. A., Marcos-Alcalde, I., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. -M., Bjerregaard, V. A., Bruel, A. -L., Challman, T. D., Cogne, B., Coubes, C., de Man, S. A., Denomme-Pichon, A. -S., Dye, T. J., Elmslie, F., Feuk, L., Garcia-Minaur, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., Mackenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Muller, A. J., O'Leary, M., Pacio-Miguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schluter, A., Schonewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmuller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gomez-Puertas, P., Pujol, A., Tumer, Z.

مصطلحات موضوعية: Brain, Disks Large Homolog 4 Protein, Human, Phenotype, Autism Spectrum Disorder, Brain Disease, Intellectual Disability, Neurodevelopmental Disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/33597769; info:eu-repo/semantics/altIdentifier/wos/WOS:000618913400001; volume:23; issue:5; firstpage:888; lastpage:899; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11571/1450608; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101043691

الاتاحة: https://hdl.handle.net/11571/1450608
https://doi.org/10.1038/s41436-020-01075-9

المؤلفون: Le Duc, D., Giulivi, C., Hiatt, S. M., Napoli, E., Panoutsopoulos, A., De Crescenzo, A., Kotzaeridou, U., Syrbe, S., Anagnostou, E., Azage, M., Bend, R., Begtrup, A., Brown, N. J., Buettner, B., Cho, M. T., Cooper, G. M., Doering, J. H., Dubourg, C., Everman, D. B., Hildebrand, M. S., Santos, F. J. Reynoso, Kellam, B., Keller-Ramey, J., Lemke, J. R., Liu, S., Niyazov, D., Payne, K., Person, R., Quelin, C., Schnur, R. E., Smith, B. T.

الاتاحة: https://espace.library.uq.edu.au/view/UQ:281e38a

المؤلفون: Rodriguez-Palmero Seuma, A., Boerrigter, M., Mandrile, G., Pelle, A., Giorgio, E., Lindstrand, A., Johansson, M., Kvarnung, M., Everman, D., Bahrambeigi, V., MacKenzie, A., Morton, J., Ruivenkamp, C., Challman, T., Hurst, A., Hoyer, J., Elmslie, F., Dye, T., Isidor, B., Haldeman-Englert, C., Gomez-Andres, D., Schluter, A., de Man, S., Shieh, J., Prada, C., Moutton, S., Denomme-Pichon, A., Motti, S., Bruel, A., Mau-Them, F. Tran, Reiter, S., van Ravenswaaij-Arts, C., Shaw-Smith, C., Parikh, S., Aldinger, K., Lovgren, A., Rauch, A., Ross, M., Gomez-Puertas, P., de Vries, B., Pujol, A., Tumer, Z.

المصدر: Rodriguez-Palmero Seuma , A , Boerrigter , M , Mandrile , G , Pelle , A , Giorgio , E , Lindstrand , A , Johansson , M , Kvarnung , M , Everman , D , Bahrambeigi , V , MacKenzie , A , Morton , J , Ruivenkamp , C , Challman , T , Hurst , A , Hoyer , J , Elmslie , F , Dye , T , Isidor , B , Haldeman-Englert , C , Gomez-Andres , D , Schluter , A , de Man , S , Shieh , J , Prada ....

Relation: https://research.rug.nl/en/publications/5e53ad69-19cf-42ef-966c-b647d4bc008d

الاتاحة: https://hdl.handle.net/11370/5e53ad69-19cf-42ef-966c-b647d4bc008d
https://research.rug.nl/en/publications/5e53ad69-19cf-42ef-966c-b647d4bc008d

المؤلفون: Wenger, TL, Bly, RA, Wu, N, Albert, CM, Park, J, Shieh, J, Chenbhanich, J, Heike, CL, Adam, MP, Chang, I, Sun, A, Miller, DE, Beck, AE, Gupta, D, Boos, MD, Zackai, EH, Everman, D, Ganapathi, S, Wilson, M, Christodoulou, J, Zarate, YA, Curry, C, Li, D, Guimier, A, Amiel, J, Hakonarson, H, Webster, R, Bhoj, EJ, Perkins, JA, Dahl, JP, Dobyns, WB

Relation: Wenger, T. L., Bly, R. A., Wu, N., Albert, C. M., Park, J., Shieh, J., Chenbhanich, J., Heike, C. L., Adam, M. P., Chang, I., Sun, A., Miller, D. E., Beck, A. E., Gupta, D., Boos, M. D., Zackai, E. H., Everman, D., Ganapathi, S., Wilson, M. ,. Dobyns, W. B. (2020). Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 182 (7), pp.1576-1591. https://doi.org/10.1002/ajmg.a.61615.; http://hdl.handle.net/11343/275870

الاتاحة: http://hdl.handle.net/11343/275870

المؤلفون: de Mollerat, X J, Everman, D B, Morgan, C T, Clarkson, K B, Rogers, R C, Colby, R S, Aylsworth, A S, Graham, J M, Stevenson, R E, Schwartz, C E

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/40/1/55; http://dx.doi.org/10.1136/jmg.40.1.55

الاتاحة: http://jmg.bmj.com/cgi/content/short/40/1/55
https://doi.org/10.1136/jmg.40.1.55

المؤلفون: Siwik, E S, Everman, D, Morrison, S

مصطلحات موضوعية: Miscellanea

وصف الملف: text/html

Relation: http://heart.bmj.com/cgi/content/short/88/1/88; http://dx.doi.org/10.1136/heart.88.1.88

الاتاحة: http://heart.bmj.com/cgi/content/short/88/1/88
https://doi.org/10.1136/heart.88.1.88

المؤلفون: Dowsett, L, Porras, AR, Kruszka, P, Davis, B, Hu, T, Honey, E, Badoe, E, Thong, M-K, Leon, E, Girisha, KM, Shukla, A, Nayak, SS, Shotelersuk, V, Megarbane, A, Phadke, S, Sirisena, ND, Dissanayake, VHW, Ferreira, CR, Kisling, MS, Tanpaiboon, P, Uwineza, A, Mutesa, L, Tekendo-Ngongang, C, Wonkam, A, Fieggen, K, Batista, LC, Moretti-Ferreira, D, Stevenson, RE, Prijoles, EJ, Everman, D, Clarkson, K, Worthington, J, Kimonis, V, Hisama, F, Crowe, C, Wong, P, Johnson, K, Clark, RD, Bird, L, Masser-Frye, D, McDonald, M, Willems, P, Roeder, E, Saitta, S, Anyane-Yeoba, K, Demmer, L, Hamajima, N, Stark, Z, Gillies, G, Hudgins, L, Dave, U, Shalev, S, Siu, V, Ades, A, Dubbs, H, Raible, S, Kaur, M, Salzano, E, Jackson, L, Deardorff, M, Kline, A, Summar, M, Muenke, M, Linguraru, MG, Krantz, ID

Relation: Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. -K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S. ,. Krantz, I. D. (2019). Cornelia de Lange syndrome in diverse populations. Am J Med Genet A, 179 (2), pp.150-158. https://doi.org/10.1002/ajmg.a.61033.; http://hdl.handle.net/11343/285251

الاتاحة: http://hdl.handle.net/11343/285251

المؤلفون: Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1):331-332

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145579543

المؤلفون: Babbs, C, Heller, R, Everman, D, Crocker, M, Twigg, SR, Schwartz, C, Giele, H, Wilkie, A

Relation: https://ora.ox.ac.uk/objects/uuid:990647ab-17dd-4457-9ee3-820e80d44f08; https://doi.org/10.1007/s00439-007-0390-7

الاتاحة: https://doi.org/10.1007/s00439-007-0390-7
https://ora.ox.ac.uk/objects/uuid:990647ab-17dd-4457-9ee3-820e80d44f08

المؤلفون: Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E

المصدر: Hodge , J C , Mitchell , E , Pillalamarri , V , Toler , T L , Bartel , F , Kearney , H M , Zou , Y S , Tan , W H , Hanscom , C , Kirmani , S , Hanson , R R , Skinner , S A , Rogers , R C , Everman , D B , Boyd , E , Tapp , C , Mullegama , S V , Keelean-Fuller , D , Powell , C M , Elsea , S H , Morton , C C , Gusella , ....

Relation: https://research.manchester.ac.uk/en/publications/3efcdf7a-51b8-4c21-bf3d-99d0ffcc9e90

الاتاحة: https://research.manchester.ac.uk/en/publications/3efcdf7a-51b8-4c21-bf3d-99d0ffcc9e90
https://doi.org/10.1038/mp.2013.42

المؤلفون: Sukalo, M., Fiedler, A., Guzman, C., Spranger, S., Addor, M., Mcheik, J., Benavent, M., Cobben, J., Gillis, L., Shealy, A., Deshpande, C., Bozorgmehr, B., Everman, D., Stattin, E., Liebelt, J., Keller, K., Bertola, D., van Karnebeek, C., Bergmann, C., Liu, Z.

المصدر: http://dx.doi.org/10.1002/humu.22538.

مصطلحات موضوعية: Johanson-Blizzard syndrome, UBR1, exocrine pancreatic insufficiency, aplasia of alae nasi, cognitive impairment

Relation: Human Mutation, 2014; 35(5):521-531; http://hdl.handle.net/2440/102896; Singh, A. [0000-0003-1336-6493]

الاتاحة: http://hdl.handle.net/2440/102896
https://doi.org/10.1002/humu.22538

المؤلفون: Lyle, Robert, Radhakrishna, Uppala, Blouin, Jean-Louis, Gagos, Sarantis, Everman, D. B., Gehrig, Corinne, Delozier-Blanchet, Celia, Solanki, J. V., Patel, U. C., Nath, S. K., Gurrieri, Fiorella, Neri, Giovanni, Schwartz, C. E., Antonarakis, Stylianos

المصدر: ISSN: 1552-4825 ; American journal of medical genetics. Part A, vol. 140, no. 13 (2006) p. 1384-1395.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Chromosomes, Human, Pair 10/ genetics, F-Box Proteins/ genetics, Female, Foot Deformities, Congenital/epidemiology/ genetics, Gene Duplication, Hand Deformities, Humans, In Situ Hybridization, Fluorescence/ methods, India/epidemiology, Male, Pedigree, Polymerase Chain Reaction/ methods, Repressor Proteins/genetics, Switzerland/epidemiology, Beta-Transducin Repeat-Containing Proteins/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/16691619; https://archive-ouverte.unige.ch/unige:8872; unige:8872

الاتاحة: https://archive-ouverte.unige.ch/unige:8872

المؤلفون: Everman, D. B., Morgan, C. T., Lyle, Robert, Laughridge, M. E., Bamshad, M. J., Clarkson, K. B., Colby, Randall, Gurrieri, Fiorella, Innes, A. M., Roberson, Jacquelyn, Schrander-Stumpel, Connie, van Bokhoven, Hans, Antonarakis, Stylianos, Schwartz, C. E.

المصدر: ISSN: 1552-4825 ; American journal of medical genetics. Part A, vol. 140, no. 13 (2006) p. 1375-1383.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Abnormalities, Multiple/diagnosis/ genetics, Chromosome Mapping, Chromosomes, Human, Pair 10/ genetics, Electrophoresis, Gel, Pulsed-Field, F-Box Proteins/ genetics, Foot Deformities, Congenital/diagnosis/ genetics, Gene Duplication, Gene Frequency, Gene Rearrangement, Hand Deformities, Humans, Linkage (Genetics), Polymerase Chain Reaction/methods, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/16761290; https://archive-ouverte.unige.ch/unige:8740; unige:8740

الاتاحة: https://archive-ouverte.unige.ch/unige:8740

المؤلفون: de Mollerat, X. J., Gurrieri, Fiorella, Morgan, C. T., Sangiorgi, Eugenio, Everman, D. B., Gaspari, Paola, Amiel, Jeanne, Bamshad, M. J., Lyle, Robert, Blouin, Jean-Louis, Allanson, J. E., Le Marec, Bernard, Wilson, Melba, Braverman, N. E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, R. E., Munnich, Arnold, Neri, Giovanni, Schwartz, C. E.

المصدر: ISSN: 0964-6906 ; Human molecular genetics, vol. 12, no. 16 (2003) p. 1959-1971.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Abnormalities, Multiple/ genetics, Cell Line, Transformed, Chromosome Aberrations, Chromosomes, Human, Pair 10, Electrophoresis, Gel, Pulsed-Field, F-Box Proteins, Foot Deformities/ genetics, Gene Duplication, Hand Deformities/ genetics, Humans, Hybrid Cells, Models, Genetic, Pedigree, Phenotype, Polymorphism, Single-Stranded Conformational, Proteins/ genetics, Sequence Analysis, DNA

Relation: info:eu-repo/semantics/altIdentifier/pmid/12913067; https://archive-ouverte.unige.ch/unige:8706; unige:8706

الاتاحة: https://archive-ouverte.unige.ch/unige:8706

المؤلفون: Siegmund, Oswald H. W, Everman, D. E, Vallerga, John V, Lampton, Michael

المصدر: Applied Optics. 27

مصطلحات موضوعية: Optics

URL الوصول: https://ntrs.nasa.gov/citations/19880047807

المؤلفون: Champion, K. J., Bunag, C., Estep, A. L., Jones, J. R., Bolt, C. H., Rogers, R. C., Rauen, K. A., Everman, D. B.

المصدر: Clinical Genetics; May2011, Vol. 79 Issue 5, p468-474, 7p, 1 Black and White Photograph, 2 Graphs

مصطلحات موضوعية: GENETIC mutation, PHOSPHORYLATION, PROTEIN kinases, MELANOMA, COLON cancer

المؤلفون: Milunsky, Jeff M., Zhao, G., Maher, T. A., Colby, R., Everman, D. B.

المصدر: Clinical Genetics; Apr2006, Vol. 69 Issue 4, p349-354, 6p, 3 Color Photographs, 1 Chart, 4 Graphs

مصطلحات موضوعية: GENETIC disorders, EXOCRINE glands, ANNUAL meetings

مصطلحات جغرافية: DALLAS (Tex.), TEXAS, UNITED States

الشركة/الكيان: AMERICAN College of Medical Genetics

المؤلفون: de Mollerat, X. J., Everman, D. B., Morgan, C. T., Clarkson, K. B., Rogers, R. C., Colby, R. S., Aylsworth, A. S., Graham, Jr., J. M., Stevenson, R. E., Schwartz, C. E.

المصدر: Journal of Medical Genetics; Jan2003, Vol. 40 Issue 1, p55-61, 7p, 1 Black and White Photograph, 2 Diagrams, 2 Charts

مصطلحات موضوعية: GENETIC disorders, GENETIC mutation, GENES, BONE diseases, DNA