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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-MondhiryCase Reports in Genetics|January 25, 2013
Sickle retinopathy in a person with hemoglobin s/new york diseaseDonovan Calder, Maryse Etienne-Julan, Marc Romana, et al.Case Reports in Genetics|November 8, 2014
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13Javier Sánchez, Ana Peciña, Olga Alonso-Luengo, et al.Case Reports in Genetics|April 29, 2026
Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic VariantMariya Al Hinai, Chantel Van Wyk, Manal Al Kharusi, et al.Case Reports in Genetics|February 13, 2026
Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case ReportUrsula Abu Nahla, Rahaf Bleibel, Mai Arafeh, et al.Case Reports in Genetics|October 18, 2012
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndromeDiana C Darcy, Scott Rosenthal, Robert J WallersteinPageof 34