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Case Reports in Genetics|February 21, 2013
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?M White, J Conroy, H Bullman, et al.Case Reports in Genetics|January 11, 2013
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL MutationRose H Mende, David P Drake, Raimos M Olomi, et al.Case Reports in Genetics|December 18, 2012
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patientFarmaditya E P Mundhofir, Helger G Yntema, Ineke van der Burgt, et al.Case Reports in Genetics|December 1, 2012
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14Javier Sánchez, Lutgardo García-Díaz, David Chinchón, et al.Case Reports in Genetics|July 11, 2013
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromesAdrian Mc Cormack, Juliet Taylor, Nerine Gregersen, et al.Case Reports in Genetics|February 18, 2016
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIaAnca Zimmermann, Heidi Rossmann, Simona Bucerzan, et al.Case Reports in Genetics|February 24, 2016
Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5Noura Biha, S M Ghaber, M M Hacen, et al.Case Reports in Genetics|March 9, 2016
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and DysmorphismJennifer Carter, Melinda Zombor, Adrienn Máté, et al.Case Reports in Genetics|April 29, 2016
Novel GLA Deletion in a Cypriot Female Presenting with Cornea VerticillataTheodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, et al.Case Reports in Genetics|November 22, 2017
Methylmalonic Acidemia with Novel MUT Gene MutationsInusha Panigrahi, Savita Bhunwal, Harish Varma, et al.Pageof 34