Case Reports in Genetics

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Table of Contents

Table of Contents

Case Reports in Genetics -
Special Issue
Volume 2015
- Article ID 932651
- Case Report

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

Marcello Marcì | Angela Guarina | ... | Nicola Sanfilippo

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

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