Case Reports in Genetics

Table of Contents: 2013

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 895259
  • - Case Report

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

M. Abreu-González | C. García-Delgado | ... | V. F. Morán-Barroso
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 857926
  • - Case Report

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Amy L. Shackelford | Laura K. Conlin | ... | Sharon L. Wenger
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 504695
  • - Case Report

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

Tovi Anderson | Allison Buterbaugh | ... | Jeannie Visootsak
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 978087
  • - Case Report

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Mariangela Cisternino | Erika Della Mina | ... | Roberto Ciccone
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 364529
  • - Case Report

Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

Neerja Gupta | Anita Kaul | Madhulika Kabra
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 785830
  • - Case Report

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Nirmala D. Sirisena | U. Kalpani S. Wijetunge | ... | Vajira H. W. Dissanayake
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 143781
  • - Case Report

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

Melisa Taboas | Cecilia Fernández | ... | Liliana Dain
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 149085
  • - Case Report

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Allison Tam | Kit Shan Lee | ... | Thomas P. Slavin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 801094
  • - Case Report

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

D. Wong | S. M. Johnson | ... | T. P. Slavin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 951710
  • - Case Report

Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

Veronica Ortega | Christina Mendiola | ... | Gopalrao V. N. Velagaleti
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 823451
  • - Case Report

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Adrian Mc Cormack | Juliet Taylor | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 306098
  • - Case Report

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Francesca Malvestiti | Francesco Benedicenti | ... | Francesca Romana Grati
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 748057
  • - Case Report

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Catarina Dias | Lara Isidoro | ... | Jorge Sales Marques
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 941684
  • - Case Report

Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Piotr K. Janicki | Sonia Vaida | Hamid A. B. AL-Mondhiry
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 260371
  • - Case Report

An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva

Rafael Herrera-Esparza | Deyanira Pacheco-Tovar | ... | Esperanza Avalos-Díaz
Case Reports in Genetics
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