Case Reports in Genetics

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Table of Contents

Table of Contents

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 -
Special Issue
Volume 2014
- Article ID 989425
- Case Report

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Sébastien Mbuyi-Musanzayi | Toni Lubala Kasole | ... | Koenraad Devriendt

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 470830
- Case Report

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Giorgia Mandrile | Eleonora Di Gregorio | ... | Alfredo Brusco

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 946010
- Case Report

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 2014
- Article ID 921240
- Case Report

A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)

Mohamad Khawandanah | Bradley Gehrs | ... | Mohamad Cherry

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 517091
- Case Report

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Javier Sánchez | Ana Peciña | ... | Salud Borrego

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 691515
- Case Report

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Filipa Flor-de-Lima | Mafalda Sampaio | ... | Miguel Leão

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 365031
- Case Report

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Sébastien Mbuyi-Musanzayi | Aimé Lumaka | ... | Koenraad Devriendt

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 273423
- Case Report

Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Daryl Graham | Megan Gooch | ... | John D’Orazio

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