Case Reports in Genetics

/ Table of Contents: 2015

Table of Contents

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

Evaluate your manuscript with the free Manuscript Language Checker

Author guidelines

Editorial board

Databases and indexing

We have begun to integrate the 200+ Hindawi journals into Wiley’s journal portfolio. You can find out more about how this benefits our journal communities on our FAQ.