Search Results - Au, Margaret G.

Genetic Counseling for Isolated GnRH Deficiency by Au, Margaret G., Crowley, William F., Buck, Cassandra L.

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Familial Risk for Chronic Disease and Intent to Share Family History With a Health Care Provider Among Urban Appalachian Women, Southwestern Ohio, 2007 by Myers, Melanie F., Au, Margaret G., Warren, Nancy S., Cornett, Sandra J., Nick, Todd G., Wang, Yu, Wallace, Jody

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Evaluating co-created patient-facing materials to increase understanding of genetic test results by Dwyer, Andrew A., Au, Margaret G., Smith, Neil, Plummer, Lacey, Lippincott, Margaret F., Balasubramanian, Ravikumar, Seminara, Stephanie B.

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FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei by Sahai, Supreet K., Steiner, Rebecca E., Au, Margaret G., Graham, John M., Salamon, Noriko, Ibba, Michael, Pierson, Tyler M.

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The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations by Martin, Cecilia, Balasubramanian, Ravikumar, Dwyer, Andrew A., Au, Margaret G., Sidis, Yisrael, Kaiser, Ursula B., Seminara, Stephanie B., Pitteloud, Nelly, Zhou, Qun-Yong, Crowley, William F.

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Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications by Lewkowitz-Shpuntoff, Hilana M., Hughes, Virginia A., Plummer, Lacey, Au, Margaret G., Doty, Richard L., Seminara, Stephanie B., Chan, Yee-Ming, Pitteloud, Nelly, Crowley, William F., Balasubramanian, Ravikumar

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Expanding the Phenotype and Genotype of Female GnRH Deficiency by Shaw, Natalie D., Seminara, Stephanie B., Welt, Corrine K., Au, Margaret G., Plummer, Lacey, Hughes, Virginia A., Dwyer, Andrew A., Martin, Kathryn A., Quinton, Richard, Mericq, Veronica, Merino, Paulina M., Gusella, James F., Crowley, William F., Pitteloud, Nelly, Hall, Janet E.

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When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR) by Gianetti, Elena, Hall, Janet E., Au, Margaret G., Kaiser, Ursula B., Quinton, Richard, Stewart, Jane A., Metzger, Daniel L., Pitteloud, Nelly, Mericq, Veronica, Merino, Paulina M., Levitsky, Lynne L., Izatt, Louise, Lang-Muritano, Mariarosaria, Fujimoto, Victor Y., Dluhy, Robert G., Chase, Matthew L., Crowley, William F., Plummer, Lacey, Seminara, Stephanie B.

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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy by Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark

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An ancient founder mutation in PROKR2 impairs human reproduction by Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly

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TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood by Gianetti, Elena, Tusset, Cintia, Noel, Sekoni D., Au, Margaret G., Dwyer, Andrew A., Hughes, Virginia A., Abreu, Ana Paula, Carroll, Jessica, Trarbach, Ericka, Silveira, Leticia F. G., Costa, Elaine M. F., de Mendonça, Berenice Bilharinho, de Castro, Margaret, Lofrano, Adriana, Hall, Janet E., Bolu, Erol, Ozata, Metin, Quinton, Richard, Amory, John K., Stewart, Susan E., Arlt, Wiebke, Cole, Trevor R., Crowley, William F., Kaiser, Ursula B., Latronico, Ana Claudia, Seminara, Stephanie B.

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy by Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

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