Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 242891
  • - Case Report

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

George A. Tanteles | Elpiniki Nikolaou | ... | Savvas S. Papacostas
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 192071
  • - Case Report

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

Adrian Mc Cormack | Cynthia Sharpe | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 926545
  • - Case Report

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

R. Hochstenbach | G. C. M. L. Page-Christiaens | ... | G. H. Schuring-Blom
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 876348
  • - Case Report

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

Ana Belén de la Hoz | Hiart Maortua | ... | María-Isabel Tejada
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 474097
  • - Case Report

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

Angelika J. Dawson | Janice Cox | ... | Elizabeth Spriggs
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 219691
  • - Case Report

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

Leema Reddy Peddareddygari | Raji P. Grewal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 950574
  • - Case Report

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

Sefa Resim | Faruk Kucukdurmaz | ... | Can Benlioglu
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 259627
  • - Case Report

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Hatice Mutlu-Albayrak | Judit Bene | ... | Bela Melegh
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 131852
  • - Case Report

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

Kristen Dilzell | Diana Darcy | ... | Robert Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 528481
  • - Case Report

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

Maria Valencia | Lara Tabet | ... | Chantal Farra
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 289627
  • - Case Report

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

Rossana Molinario | Sara Palumbo | ... | Ettore Capoluongo
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 212436
  • - Case Report

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism

Veronica Goitia | Marcial Oquendo | Robert Stratton
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 239167
  • - Case Report

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Nivedita U. Jerath | Cameron D. Crockett | ... | Andrea Swenson
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 301264
  • - Case Report

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Tetsuya Kawahara | Hiromi Watanabe | ... | Tetsuya Inazu
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 239874
  • - Erratum

Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”

Sun-Mi Cho | Bo Young Hong | ... | Kyung-A Lee
Case Reports in Genetics
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