Case Reports in Genetics

Table of Contents: 2015

  • 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 -
  • Special Issue
  • Volume 2015
  • - Article ID 453105
  • - Case Report

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

Teva Brender | Donna Wallerstein | ... | Robert Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 347342
  • - Case Report

Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Patrick Lin | Sheela Raikar | ... | Katryn N. Furuya
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 517678
  • - Case Report

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Carolina Sismani | Georgia Christopoulou | ... | Voula Velissariou
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 321014
  • - Case Report

Exceptional Complex Chromosomal Rearrangements in Three Generations

Hannie Kartapradja | Nanis Sacharina Marzuki | ... | Alida Roswita Harahap
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 943905
  • - Case Report

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Guillaume Jedraszak | Aline Receveur | ... | Gilles Morin
Case Reports in Genetics
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