Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry
Wilkinson, James D., MD, MPH, Lowe, April M., MS, Salbert, Bonnie A., DO, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Connuck, David M., MD, Messere, Jane E., RN, Lipshultz, Steven E., MD
Published in The American heart journal (01.09.2012)
Published in The American heart journal (01.09.2012)
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Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry
Connuck, David M., MD, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Lowe, April M., MS, Wilkinson, James D., MD, MPH, Orav, E. John, PhD, Cuniberti, Leigha, BA, Salbert, Bonnie A., DO, Lipshultz, Steven E., MD
Published in The American heart journal (01.06.2008)
Published in The American heart journal (01.06.2008)
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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Högel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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The different clinical facets of SYN1 -related neurodevelopmental disorders
Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel
Published in Frontiers in cell and developmental biology (08.12.2022)
Published in Frontiers in cell and developmental biology (08.12.2022)
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Packed red cell transfusion does not compromise chromosome analysis in newborns
Kulharya, Anita S., Salbert, Bonnie A., Norris, Karen N., Cook, Lloyd, Larrison, Patricia J., Flannery, David B.
Published in Genetics in medicine (01.07.2001)
Published in Genetics in medicine (01.07.2001)
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Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers
Reynolds, J E, Arnos, K S, Landa, B, Stevens, C A, Salbert, B A, Wright, L, Duke, B, Hunt, W, Marazita, M L, Ploughman, L
Published in Human heredity (01.09.1995)
Published in Human heredity (01.09.1995)
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