Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

por Chuang, Janet, Vallerie, Amy, Breech, Lesley, Saal, Howard M, Alam, Shumyle, Crawford, Peggy, Rutter, Meilan M
Publicado 2013

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

por Plancher, Joao McONeil, Hufnagel, Robert B., Vagal, Achala, Peariso, Katrina, Saal, Howard M., Broderick, Joseph P.
Publicado 2015

Characterization of tracheobronchomalacia in infants with hypophosphatasia

por Padidela, Raja, Yates, Robert, Benscoter, Dan, McPhail, Gary, Chan, Elaine, Nichani, Jaya, Mughal, M. Zulf, Myer, Charles, Narayan, Omendra, Nissenbaum, Claire, Wilkinson, Stuart, Zhou, Shanggen, Saal, Howard M.
Publicado 2020

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

por Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Publicado 2019

LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia

por Savarirayan, Ravi, Wilcox, William W, Harmatz, Paul, III, John Phillips, Polgreen, Lynda E, Tofts, Louise, Ozono, Keiichi, Arundel, Paul, Irving, Melita, Bacino, Carlos A, Basel, Donald, Bober, Michael B, Charrow, Joel, Mochizuki, Hiroshi, Kotani, Yumiko, Saal, Howard M, Jeha, George, Han, Lynn, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan
Publicado 2022

Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers

por Friedman, Eitan, Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T, Ghadirian, Parviz, Neuhausen, Susan L, Isaacs, Claudine, Weber, Barbara, Foulkes, William D, Moller, Pal, Rosen, Barry, Kim-Sing, Charmaine, Gershoni-Baruch, Ruth, Ainsworth, Peter, Daly, Mary, Tung, Nadine, Eisen, Andrea, Olopade, Olufunmilayo I, Karlan, Beth, Saal, Howard M, Garber, Judy E, Rennert, Gad, Gilchrist, Dawna, Eng, Charis, Offit, Kenneth, Osborne, Michael, Sun, Ping, Narod, Steven A
Publicado 2006

SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

por Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschmeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane, Saal, Howard M, Leiva-Gea, Antonio, Luna-Gonzáles, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan
Publicado 2020

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

por Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R., Bacino, Carlos A., Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B., Polgreen, Lynda E., Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K., Saal, Howard M., Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M., Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan R. S.
Publicado 2021