المؤلفون: Muenke, Maximilian, Gurrieri, Fiorella, Bay, Carolyn, Yi, David H., Collins, Amanda L., Johnson, Virginia P., Schaefer, G. Bradley, Weik, LuAnn, Lubinsky, Mark S., Daack-Hirsch, Sandy, Moore, Cynthia A., Dobyns, William B., Murray, Jeffrey C., Price, R. Arlen

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1994 Aug . 91(17), 8102-8106.

الوصول الحر: https://www.jstor.org/stable/2365638Test

المؤلفون: Reis, Linda M., Seese, Sarah, Maheshwari, Mohit, Basel, Donald, Weik, LuAnn, McCarrier, Julie, Semina, Elena V.

المصدر: Genes; Jul2022, Vol. 13 Issue 7, p1165-1165, 9p

مصطلحات موضوعية: GENETIC disorder diagnosis, DYSPLASIA, OPTIC nerve, EXOMES, TRANSCRIPTION factors, PHENOTYPES

المؤلفون: Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.

المصدر: The American Journal of Human Genetics ; volume 88, issue 1, page 121 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.12.005Test
https://api.elsevier.com/content/article/PII:S0002929710006415?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929710006415?httpAccept=text/plainTest

المؤلفون: Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.

المصدر: The American Journal of Human Genetics ; volume 87, issue 5, page 618-630 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.10.004Test
https://api.elsevier.com/content/article/PII:S0002929710005203?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929710005203?httpAccept=text/plainTest

المؤلفون: Basel, Donald, Bick, David, Chirempes, Brett, Lorier, Rachel, Zemlicka, Nykula, Grignon, John, Weik, LuAnn, Kappes, Ulrike, Peterson, Jess

المصدر: Journal of Pediatric Genetics ; volume 07, issue 01, page 023-028 ; ISSN 2146-4596 2146-460X

الإتاحة: https://doi.org/10.1055/s-0037-1604448Test

المؤلفون: Hampel, Heather, Grubs, Robin E., Walton, Carol S., Nguyen, Emma, Breidenbach, Daniel H., Nettles, Steve, Corliss, Meagan, Fox, Stephanie, Hiraki, Susan, Ku, Lisa, Neufeld‐Kaiser, Whitney, Riley, Bronson, Taylor, Jamie, Weik, LuAnn

المصدر: Journal of Genetic Counseling ; volume 18, issue 3, page 205-216 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1007/s10897-009-9216-1Test

المؤلفون: Peterson, Jess F., Basel, Donald G., Bick, David P., Chirempes, Brett, Lorier, Rachel B., Zemlicka, Nykula, Grignon, John W., Weik, LuAnn, Kappes, Ulrike

المصدر: Journal of Pediatric Genetics; March 2018, Vol. 7 Issue: 1 p023-028, 6p

المؤلفون: Brar, Randeep, Basel, Donald G., Bick, David P., Weik, LuAnn, vanTuinen, Peter, Peterson, Jess F.

المصدر: Journal of the Association of Genetic Technologists; 2017 2nd Quarter, Vol. 43 Issue 2, p56-58, 3p

مصطلحات موضوعية: TRISOMY, MOSAICISM

المؤلفون: Carneol, Susan Oliff, Marks, Susan M., Weik, LuAnn

المصدر: American Journal of Speech-Language Pathology; February 1999, Vol. 8 Issue: 1 p23-32, 10p