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American Journal of Medical Genetics. Part A|February 5, 2016
Enhancing genomic laboratory reports: A qualitative analysis of provider reviewJanet L Williams, Alanna Kulchak Rahm, Heather Stuckey, et al.American Journal of Medical Genetics. Part A|May 21, 2016
Is the diagnostic yield influenced by the indication for fetal autopsy?Ratna Dua Puri, Udhaya Kotecha, Meena Lall, et al.American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.American Journal of Medical Genetics. Part A|June 3, 2016
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutationsMohamed S Abdel-Hamid, Manal F Ismail, Hebatallh A Darwish, et al.American Journal of Medical Genetics. Part A|June 4, 2016
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotypeSharolin Boban, Kingsley Wong, Amy Epstein, et al.American Journal of Medical Genetics. Part A|June 4, 2016
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disabilityLuisa Mackenroth, Karl Hackmann, Barbara Klink, et al.American Journal of Medical Genetics. Part A|April 16, 2016
Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutationTsukasa Ishiwata, Nobuhiro Tanabe, Ayako Shigeta, et al.American Journal of Medical Genetics. Part A|April 20, 2016
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuseYuri A Zarate, Rachel Clingenpeel, Elizabeth A Sellars, et al.American Journal of Medical Genetics. Part A|April 20, 2016
A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathyOmri David Soffer, Richard SidlowAmerican Journal of Medical Genetics. Part A|May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.Pageof 928