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American Journal of Medical Genetics. Part A|July 6, 2016
8q21.11 microdeletion in two patients with syndromic peters anomalyHannah Happ, Kala F Schilter, Eric Weh, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twinsMatthew M Meredith, Beau Crabb, Marcelo Vargas, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patientsMaria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Peeling skin syndrome associated with novel variant in FLG2 geneAhmed Alfares, Sultan Al-Khenaizan, Fuad Al Mutairi
American Journal of Medical Genetics. Part A|September 9, 2017
Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to dateSarah J Hart, Jeannie Visootsak, Paul Tamburri, et al.
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Perthes disease: A new finding in Floating-Harbor syndromeDonatella Milani, Giulietta Scuvera, Marta Gatti, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Growth pattern of Rahman syndromeToshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki, et al.
American Journal of Medical Genetics. Part A|January 10, 2018
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusionsMarcello Scala, Andrea Accogli, Elisa De Grandis, et al.
American Journal of Medical Genetics. Part A|February 6, 2018
A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defectsWendy N Nembhard, Xinyu Tang, Jingyun Li, et al.
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