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American Journal of Medical Genetics. Part A|December 21, 2013
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature reviewGerarda Cappuccio, Rita Genesio, Valentina Ronga, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouseAndrea Aerts, Ian DeVolder, Seth M Weinberg, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Growth curves in Down syndrome: implications for clinical practiceFabio Bertapelli, Juan Eduardo Samur-San Martin, Ezequiel Moreira Gonçalves, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndromeKenji Shimizu, Keiko Wakui, Tomoki Kosho, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrationsGesa Schwanitz, Javad Karim Zad Hagh, Isa Abdi Rad, et al.
American Journal of Medical Genetics. Part A|December 17, 2013
Orthopedics management of acromicric dysplasia: follow up of nine patientsCéline Klein, Carine Le Goff, Vicken Topouchian, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6)Roberta La Piana, Carla Uggetti, Ivana Olivieri, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?M Mucciolo, P Magini, A Marozza, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A new case of a LUMBAR syndromeMahin Golabi, Andrew C An, Christina Lopez, et al.
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