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American Journal of Medical Genetics. Part A|January 21, 2016
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/betaTakumi Shibazaki, Koichi Hirabayashi, Shoji Saito, et al.American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.American Journal of Medical Genetics. Part A|March 31, 2016
Congenital limb deficiency classification and nomenclature: The need for a consensusRobert Brian Lowry, Tanya BedardAmerican Journal of Medical Genetics. Part A|March 31, 2016
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature reviewPu Yang, Hu Tan, Yan Xia, et al.American Journal of Medical Genetics. Part A|March 31, 2016
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOSBlanche P Alter, Neelam GiriAmerican Journal of Medical Genetics. Part A|March 24, 2016
Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare caseYong-Jia Yang, Xu Yao, Jihong Guo, et al.American Journal of Medical Genetics. Part A|March 27, 2016
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophyChristina Evers, Lilian Kaufmann, Angelika Seitz, et al.American Journal of Medical Genetics. Part A|February 12, 2016
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotypeClaudia Cesaretti, Luigina Spaccini, Andrea Righini, et al.American Journal of Medical Genetics. Part A|February 12, 2016
Tatton-Brown-Rahman syndrome due to 2p23 microdeletionNobuhiko Okamoto, Yasuhisa Toribe, Keiko Shimojima, et al.American Journal of Medical Genetics. Part A|February 12, 2016
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentationAlexandra Topa, Mar Tulinius, Anders Oldfors, et al.Pageof 928