Rezultati - Howard M. Saal
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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa od Priya S. Kishnani, Eric T. Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William D. Fraser, Paul Harmatz, Agnès Linglart, Craig Munns, Mark E. Nuñes, Howard M. Saal, Lothar Seefried, Keiichi Ozono
Izdano 2017Revisão -
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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome od Andrew Lindsley, Howard M. Saal, Thomas Andrew Burrow, Robert J. Hopkin, Oleg A. Shchelochkov, Pooja Khandelwal, Changchun Xie, Jack Bleesing, Lisa Filipovich, Kimberly Risma, Amal Assa’ad, Phillip A. Roehrs, Jonathan A. Bernstein
Izdano 2015Artigo -
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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents od Jeffrey R. Botkin, John W. Belmont, Jonathan S. Berg, Benjamin E. Berkman, Yvonne Bombard, Ingrid A. Holm, Howard P. Levy, Kelly E. Ormond, Howard M. Saal, Nancy B. Spinner, Benjamin S. Wilfond, Joseph D. McInerney
Izdano 2015Revisão -
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Motor Delays: Early Identification and Evaluation od Garey Noritz, Nancy Murphy, Nancy Murphy, Joseph F. Hagan, Paul H. Lipkin, Michelle M. Macias, Dipesh Navsaria, Garey Noritz, Georgina Peacock, Peter Rosenbaum, Howard M. Saal, John F. Sarwark, Mark E. Swanson, Max Wiznitzer, Marshalyn Yeargin‐Allsopp
Izdano 2013Artigo -
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction od K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel, Joaquín Navajas Acedo, Luke L. Linscott, Kristen L. Sund, Patricia L. Bender, Rainer König, Charles Marques Lourenço, Ute Hehr, Robert J. Hopkin, Dietmar Lohmann, Paul A. Trainor, Dagmar Wieczorek, Howard M. Saal
Izdano 2015Artigo -
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Recommendations for returning genomic incidental findings? We need to talk! od Wylie Burke, Armand H. Matheny Antommaria, Robin L. Bennett, Jeffrey R. Botkin, Ellen Wright Clayton, Gail E. Henderson, Ingrid A. Holm, Gail P. Jarvik, Muin J. Khoury, Bartha Maria Knoppers, Nancy A. Press, Lainie Friedman Ross, Mark A. Rothstein, Howard M. Saal, Wendy R. Uhlmann, Benjamin S. Wilfond, Susan M. Wolf, Ron Zimmern
Izdano 2013Revisão -
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Genetics of Disorders of Sex Development od Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Éric Vilain, Emmanuèle C. Délot, Michelle Fox, Wayne W. Grody, Hane Lee, Jeanette C. Papp, Éric Vilain, Catherine E. Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard M. Saal, Ina Amarillo, Margaret P Adam
Izdano 2017Revisão -
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The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation od Adriana Valentini, Jan Lubiński, Tomasz Byrski, Parviz Ghadirian, Pål Møller, Henry T. Lynch, Peter Ainsworth, Susan L. Neuhausen, Jeffrey N. Weitzel, Christian F. Singer, Olufunmilayo I. Olopade, Howard M. Saal, Dominique Stoppa Lyonnet, William D. Foulkes, Charmaine Kim‐Sing, Siranoush Manoukian, Dana Zakalik, Susan Randall Armel, Leigha Senter, Charis Eng, Eva Grunfeld, Anna M. Chiarelli, Aletta Poll, Ping Sun, Steven A. Narod
Izdano 2013Artigo -
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies od Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valérie Cormier‐Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos‐Simarro, Jean‐Pierre Salles, Marc Nicolino, Massimiliano Rossi, Pekka Kannus, Michael B. Bober, John A. Phillips, Howard M. Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover‐Fong, Melita Irving
Izdano 2022Artigo -
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Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence od Corstiaan C. Breugem, Kelly N. Evans, Christian F. Poets, Sunjay Suri, A. Picard, Charles Filip, Emma C. Paes, Felicity V. Mehendale, Howard M. Saal, Hanneke Basart, Jyotsna Murthy, Koen Joosten, Luciënne Speleman, Marcus Vinícius Martins Collares, Marie‐José H. van den Boogaard, M.S.M. Muradin, Maud Els-Marie Andersson, Mikihiko Kogo, Peter G. Farlie, J. Peter W. Don Griot, Peter Mossey, Rona Slator, Véronique Abadie, Paul Hong
Izdano 2016Revisão -
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Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study od Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover‐Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober, Lynda E. Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel G. Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane K. White, Howard M. Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania M Porco, Kala Jayaram, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day
Izdano 2021Artigo -
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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia od Christopher T. Gordon, K. Nicole Weaver, Roseli Maria Zechi‐Ceide, Erik Madsen, André L. P. Tavares, Myriam Oufadem, Yukiko Kurihara, Igor Adameyko, Arnaud Picard, Sylvain Breton, S. Pierrot, Martin Biosse Duplan, Norine Voisin, Cécile Masson, Christine Bôle‐Feysot, Patrick Nitschké, Marie-Ange Delrue, Didier Lacombe, Maria Leine Guion‐Almeida, Priscila Padilha Moura, Daniela Gamba Garib, Arnold Münnich, Patrik Ernfors, Robert B. Hufnagel, Robert J. Hopkin, Hiroki Kurihara, Howard M. Saal, David D. Weaver, Nicholas Katsanis, Stanislas Lyonnet, Christelle Golzio, David E. Clouthier, Jeanne Amiel
Izdano 2015Artigo -
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Rapid progression of prostate cancer in men with a BRCA2 mutation od Steven A. Narod, Susan L. Neuhausen, G. Vichodez, Susan Randall Armel, Henry T. Lynch, P Ghadirian, Shelly Cummings, O. I. Olopade, Dominique Stoppa‐Lyonnet, Fergus J. Couch, Teresa Wagner, Ellen Warner, William D. Foulkes, Howard M. Saal, Jeffrey N. Weitzel, A Tulman, Aletta Poll, R. Nam, Peng Sun, Jessica Danquah, Susan M. Domchek, Nadine Tung, Peter Ainsworth, Douglas E. Horsman, Charmaine Kim‐Sing, Christine Maugard, Andrea Eisen, Mary B. Daly, Wendy McKinnon, Marie Wood, Claudine Isaacs, Dawna Gilchrist, Beth Y. Karlan, Raluca Nedelcu, Wendy S. Meschino, Judy E. Garber, Barbara Pasini, Siranoush Manoukian, C Bellati
Izdano 2008Artigo
Iskalna orodja:
Sorodne teme
Medicine
Internal medicine
Biology
Genetics
Pediatrics
Gene
Intensive care medicine
Surgery
Cancer
Genetic testing
Oncology
Psychiatry
Sociology
Confidence interval
Disease
Endocrinology
Environmental health
Family medicine
Gynecology
Law
Medical genetics
Multidisciplinary approach
Pathology
Phenotype
Political science
Population
Psychology
Radiology
Social science
Achondroplasia