Preconception and prenatal testing of biologic fathers for carrier status

Por Pletcher, Beth A., Bocian, Maureen
Publicado em 2006

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Por Shah, Forum T., Steinhaus French, Kathryn, Osann, Kathryn E., Bocian, Maureen, Jones, Marilyn C., Korty, Lauren
Publicado no J Clin Med (2014)

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB)...

Por Ramanathan, Subhadra, Woodroffe, Abigail, Flodman, Pamela L, Mays, Lee Z, Hanouni, Mona, Modahl, Charlotte B, Steinberg-Epstein, Robin, Bocian, Maureen E, Spence, M Anne, Smith, Moyra
Publicado em 2004

Head Circumference and Height in Autism: A Study by the Collaborative Program of Excellence in Autism

Por Lainhart, Janet E., Bigler, Erin D., Bocian, Maureen, Coon, Hilary, Dinh, Elena, Dawson, Geraldine, Deutsch, Curtis K., Dunn, Michelle, Estes, Annette, Tager-Flusberg, Helen, Folstein, Susan, Hepburn, Susan, Hyman, Susan, McMahon, William, Minshew, Nancy, Munson, Jeff, Osann, Kathy, Ozonoff, Sally, Rodier, Patricia, Rogers, Sally, Sigman, Marian, Spence, M. Anne, Stodgell, Christopher J., Volkmar, Fred
Publicado no Am J Med Genet A (2006)

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Por Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado no Am J Hum Genet (2015)

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Por Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A., Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M., Hedera, Peter, Hennekam, Raoul C.M., Hersh, Joseph H., Hopkin, Robert J., Kayserili, Hülya, Kidd, Alexa M.J., Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M., Biesecker, Leslie G.
Publicado em 2010