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Case Reports in Genetics|November 27, 2018
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual DisabilityNadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, et al.Case Reports in Genetics|February 13, 2013
Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from IndiaRupesh R Sanap, Arundhati S Athalye, Prochi F Madon, et al.Case Reports in Genetics|February 13, 2013
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicismJonathan Lévy, Jean-Marie Jouannic, Julien Saada, et al.Case Reports in Genetics|July 22, 2014
Complex variant of Philadelphia translocation involving chromosomes 9, 12, and 22 in a case with chronic myeloid leukaemiaF Malvestiti, C Agrati, S Chinetti, et al.Case Reports in Genetics|January 16, 2013
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndromeFrenny Sheth, Naresh Gohel, Thomas Liehr, et al.Case Reports in Genetics|December 1, 2012
Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrheaUsha R Dutta, Vijaya Kumar Pidugu, Ashwin DalalCase Reports in Genetics|March 20, 2013
A case of premature ovarian failure in a 33-year-old womanEmma Colao, Teresa Granata, Marco F M Vismara, et al.Case Reports in Genetics|May 22, 2013
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 GeneCatarina Dias, Lara Isidoro, Mafalda Santos, et al.Case Reports in Genetics|May 9, 2013
An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans ProgressivaRafael Herrera-Esparza, Deyanira Pacheco-Tovar, Juan José Bollain-Y-Goytia, et al.Case Reports in Genetics|May 11, 2013
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiencyPiotr K Janicki, Sonia Vaida, Hamid A B Al-MondhiryPageof 35