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American Journal of Medical Genetics. Part A|April 29, 2018
Atypical presentations associated with non-polyalanine repeat PHOX2B mutationsUmakanth Katwa, Alissa M D'Gama, Anita E Qualls, et al.American Journal of Medical Genetics. Part A|April 29, 2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesisChloé Quélin, Philippe Loget, Lucile Boutaud, et al.American Journal of Medical Genetics. Part A|July 8, 2017
Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab EmiratesJennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri, et al.American Journal of Medical Genetics. Part A|July 8, 2017
Neural tube defects in Waardenburg syndrome: A case report and review of the literatureJoseph Hart, Kalpana MiriyalaAmerican Journal of Medical Genetics. Part A|April 18, 2018
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creasesEva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, et al.American Journal of Medical Genetics. Part A|April 18, 2018
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineationTomoko Uehara, Takashi Ishige, Shigeto Hattori, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Worries and needs of adults and parents of adults with neurofibromatosis type 1Andre B Rietman, Hanneke van Helden, Pauline H Both, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotypeMegan A Waldrop, Felecia Gumienny, Daniel Boue, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Philtrum length and intercommissural distance measurements at mixed dentition periodMostafa Mostafa, Nehal Hassib, Inas Sayed, et al.Pageof 928