A dyadic approach to the delineation of diagnostic entities in clinical genomics von Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

Volltext

Phenotypic spectrum and management issues in Kabuki syndrome von Kawame, Hiroshi, Hannibal, Mark C., Hudgins, Louanne, Pagon, Roberta A.

Volltext

GeneTests: an online genetic information resource for health care providers von Pagon, Roberta A

Volltext

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations von Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, RaoulC.M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips III, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

Volltext

GeneTests: Integrating Genetic Services into Patient Care von Pagon, Roberta A.

Volltext

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia von Sock, Elisabeth, Pagon, Roberta A., Keymolen, Kathelijn, Lissens, Willy, Wegner, Michael, Scherer, Gerd

Volltext

Ambiguous genitalia: What prenatal genetic testing is practical? von Adam, Margaret P., Fechner, Patricia Y., Ramsdell, Linda A., Badaru, Angela, Grady, Richard E., Pagon, Roberta A., McCauley, Elizabeth, Cheng, Edith Y., Parisi, Melissa A., Shnorhavorian, Margarett

Volltext

Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report von Lubin, Ira M, McGovern, Margaret M, Gibson, Zoe, Gross, Susan J, Lyon, Elaine, Pagon, Roberta A, Pratt, Victoria M, Rashid, Jamila, Shaw, Colleen, Stoddard, Lander, Trotter, Tracy L, Williams, Marc S, Amos Wilson, Jean, Pass, Kenneth

Volltext

Ordering Molecular Genetic Tests and Reporting Results: Practices in Laboratory and Clinical Settings von Lubin, Ira M, Caggana, Michele, Constantin, Carolyn, Gross, Susan J, Lyon, Elaine, Pagon, Roberta A, Trotter, Tracy L, Wilson, Jean Amos, McGovern, Margaret M

Volltext

A Gender Assessment Team: experience with 250 patients over a period of 25 years von Parisi, Melissa A, Ramsdell, Linda A, Burns, Mark W, Carr, Michael C, Grady, Richard E, Gunther, Daniel F, Kletter, Gadi B, McCauley, Elizabeth, Mitchell, Michael E, Opheim, Kent E, Pihoker, Catherine, Richards, Gail E, Soules, Michael R, Pagon, Roberta A

Volltext

Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties von Srinivasan, Malathi, Day, Frank C., Griffin, Erin, Tancredi, Daniel J., Burke, Wylie, Pinsky, Linda, Pagon, Roberta A., Hoffman, Jerome R., Wilkes, Michael S.

Volltext

Genetic testing: when to test, when to refer von Pagon, Roberta A

Volltext

CHARGE Association: An Update and Review for the Primary Pediatrician von Blake, Kim D., Davenport, Sandra L. H., Hall, Bryan D., Hefner, Margaret A., Pagon, Roberta A., Williams, Marc S., Lin, Angela E., Graham, John M.

Volltext

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program von Faucett, William Andrew, Hart, Suzanne, Pagon, Roberta A., Neall, Lisa Forman, Spinella, Giovanna

Volltext

Genetic testing for disease susceptibilities: consequences for genetic counseling von Pagon, Roberta A

Volltext

Partial ATRX gene duplication causes ATR-X syndrome von Cohn, Dianne M., Pagon, Roberta A., Hudgins, Louanne, Schwartz, Charles E., Stevenson, Roger E., Friez, Michael J.

Volltext

Molecular genetic testing for inherited disorders von Pagon, Roberta A

Volltext

Internet Resources in Medical Genetics von Waggoner, Darrel J., Pagon, Roberta A.

Volltext

Internet Resources in Medical Genetics von Pagon, Roberta A.

Volltext

Effective communication of molecular genetic test results to primary care providers von Scheuner, Maren T., Edelen, Maria Orlando, Hilborne, Lee H., Lubin, Ira M.

Volltext