Risultati della ricerca - Donald Basel

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  1. 1
    Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

    Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition di Donald Basel, Robert D. Steiner

    Pubblicazione 2009
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  2. 2
    Bisphosphonate therapy for osteogenesis imperfecta

    Bisphosphonate therapy for osteogenesis imperfecta di Kerry Dwan, Carrie A. Phillipi, Robert D. Steiner, Donald Basel

    Pubblicazione 2016
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  3. 3
    Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

    Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27 di Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska, Donald Basel, Peter Beighton, Petros Tsipouras

    Pubblicazione 2000
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  4. 4
    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies di Christina L. Alamillo, Zöe Powis, Kelly D. Farwell, Layla Shahmirzadi, Elaine Weltmer, John Turocy, Thomas W. Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang

    Pubblicazione 2015
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  5. 5
    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy di Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, François Bernier, Kym M. Boycott, Jacek Majewski, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

    Pubblicazione 2014
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  6. 6
    Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics

    Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics di Dawn H. Siegel, Catherine E. Cottrell, Jenna L. Streicher, Kala F. Schilter, Donald Basel, Eulàlia Baselga, Patricia E. Burrows, Heather Ciliberto, Katinka A. Vigh‐Conrad, Lawrence F. Eichenfield, Kristen E. Holland, Marcia Hogeling, John Jensen, Michael Kelly, Wendy Kim, David M. King, Catherine McCuaïg, Katherine A. Mueller, Elena Pope, Julie Powell, Harper Price, Jack E. Steiner, Ilona J. Frieden, Megha M. Tollefson, Beth A. Drolet

    Pubblicazione 2017
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  7. 7
    Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

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

    Pubblicazione 2021
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  8. 8
    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations di Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish, Jill A. Rosenfeld, Florence Petit, Maria de Fátima Soares, Leslie Domenici Kulikowski, Adriana Di‐Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G. Seaby, Sarah Ennis, Rodney D. Gilbert, R. Tanner Hagelstrom, María Laura Cremona, Wenhui L. Li, Alka Malhotra, Anjana Chandrasekhar, Denise Perry, Ryan J. Taft, Julie McCarrier, Donald Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo J.S. Pereira, Marguerite Neerman‐Arbez, Vera Ayres Meloni, Margaret Drummond‐Borg, Maria Isabel Melaragno, Alexandre Reymond

    Pubblicazione 2017
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  9. 9
    Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

    Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt di James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan, David J. Amor, Siddharth Banka, Donald Basel, Laura D. Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton‐Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P. Gilfillan, Nina B. Gold, Karen W. Gripp, Emma Hobson, Alexander M. Holtz, A. Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul J. Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H. Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E. Posey, Rhonda E. Schnur, Marie Shaw, Elliot Stolerman, Julie P. Taylor, Erin Wadman, Emma Wakeling, Susan M. White, Lawrence C. Wong, James R. Lupski, Olivier Lichtarge, Mark Corbett, Jozef Gécz, Charles M. Nicolet, Peggy Farnham, Cheol‐Hee Kim, Marwan Shinawi

    Pubblicazione 2024
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  10. 10
    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency di Clare V. Logan, Jennie Murray, David Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valérie Borel, Adeline Fluteau, Javier Santoyo‐López, Timothy J. Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele R. Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn E. McCandless, Julie McCarrier, Kay Metcalfe, Rose Morrissey, Nuala Murphy, Irène Netchine, Susan O’Çonnell, Ann Haskins Olney, Nandina Paria, Jill A. Rosenfeld, Mark Sherlock, Erin Syverson, Perrin C. White, Carol A. Wise, Yao Yu, Margaret Zacharin, Indraneel Banerjee, Martin A.M. Reijns, Michael B. Bober, Robert K. Semple, Simon J. Boulton, Jonathan J. Rios, Andrew P. Jackson, Timothy J. Aitman, Andrew V. Biankin, Susanna L. Cooke, Wendy Inglis Humphrey, Sancha Martin, Lynne J. Mennie, Alison Meynert, Zosia Miedzybrodzka, Fiona Murphy, Craig Nourse, Javier Santoyo‐López, Colin A. Semple, Nicola Williams

    Pubblicazione 2018
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  11. 11
    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation di Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary A. Bellus, Lynne M. Bird, Maria Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, M. Cristina Digilio, Shelley K. Dills, Laura Dosa, Robert Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi Jones, Justin T. Jordan, Pekka Kannus, Bruce R. Korf, Andrea M. Lewis, Robert Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie McDonald, Carey McDougall, Nancy J. Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sébastien Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel Pond, Linda M. Randolph, Katherine A. Rauen, Surya P. Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela Trapane, Nicole J. Ullrich, Emily Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine H. Zackai, Kathleen Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Pubblicazione 2018
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  12. 12
    Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

    Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance di Carol Durno, Ayse B. Ercan, Vanessa Bianchi, Melissa Edwards, Melyssa Aronson, Melissa A. Galati, Eshetu G. Atenafu, Gadi Abebe‐Campino, Abeer Al-Battashi, Musa Alharbi, Vahid Fallah Azad, Hagit Baris, Donald Basel, Raymond Bedgood, Anne Bendel, Shay Ben‐Shachar, Deborah T. Blumenthal, Maude L. Blundell, Miriam Bornhorst, Annika Bronsema, Elizabeth Cairney, Sara Rhode, Shani Caspi, Aghiad Chamdin, Stefano Chiaravalli, Shlomi Constantini, Bruce Crooks, Anirban Das, Rina Dvir, Roula Farah, William D. Foulkes, Z Frenkel, Bailey Gallinger, Sharon L. Gardner, David Gass, Mithra Ghalibafian, Catherine Gilpin, Yael Goldberg, Catherine Goudie, Syed Ahmer Hamid, Heather Hampel, Jordan R. Hansford, Craig Harlos, Nobuko Hijiya, Saunders Hsu, Junne Kamihara, Rejin Kebudi, Jeffrey Knipstein, Carl Koschmann, Christian P. Kratz, Valérie Larouche, Álvaro Lassaletta, Scott Lindhorst, Simon C. Ling, Michael P. Link, Rebecca Loret De Mola, Rebecca C. Luiten, Michal Lurye, Jamie L. Maciaszek, Vanan MagimairajanIssai, Ossama Maher, Maura Massimino, Rose B. McGee, Naureen Mushtaq, Gary Mason, Monica Newmark, Garth Nicholas, Kim E. Nichols, Theodore Nicolaides, Enrico Opocher, Michael Osborn, Benjamin Oshrine, Rachel Pearlman, Daniel Pettee, Jan Rapp, Mohsin Rashid, Alyssa Reddy, Lara Reichman, Marc Remke, Gabriel Robbins, Sumita Roy, Magnus Sabel, David Samuel, Isabelle Scheers, Kami Wolfe Schneider, Santanu Sen, Duncan Stearns, David Sumerauer, Carol J. Swallow, Leslie M. Taylor, Gregory A. Thomas, Helen Toledano, Patrick Tomboc, An Van Damme, Ira Winer, Michal Yalon, Yi‐Yen Lee, Michal Zápotocký, Shayna Zelcer, David S. Ziegler

    Pubblicazione 2021
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  13. 13
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... di Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Pubblicazione 2019
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