Case Reports in Genetics

/ Table of Contents

Table of Contents

Table of Contents

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 3654618
- Case Report

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Theocharis Koufakis | Amalia Sertedaki | ... | Kalliopi Kotsa

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 8492965
- Case Report

Ocular Manifestations of the NAA10-Related Syndrome

Angela S. Gupta | Hind Al Saif | ... | Natario L. Couser

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 2691820
- Case Report

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

J. M. Ramirez | F. A. Rodríguez | ... | N. F. Renna

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 6845836
- Case Report

Pallister-Hall Syndrome Presenting in Adolescence

Aria Mahtabfar | Niall Buckley | ... | Ian Marshall

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 7052062
- Case Report

Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient

Wai-Yu Wong | Helen Wong | ... | Eric Chan

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 8538325
- Case Report

Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia

A. Rincón | L. Mora | ... | J. A. Rojas

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 7608348
- Case Report

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

Alejandra Rincon | Paola Paez-Rojas | Fernando Suárez-Obando

Case Reports in Genetics -
Special Issue
Volume 2019
- Article ID 9056596
- Case Report

A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

Taishi Fujisawa | Yoshiyasu Aizawa | ... | Keiichi Fukuda

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 2618071
- Case Report

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

Kwo Wei David Ho | Nivedita U. Jerath

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 9468049
- Case Report

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Salma M. Wakil | Dorota Monies | ... | Saeed A. Bohlega

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 8635698
- Case Report

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Ahmed Bouhouche | Houyam Tibar | ... | Elmostafa El Fahime

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 4173704
- Case Report

Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene

Charles Volk | Gregory Matwiyoff

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 6898546
- Case Report

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait

Nyamkhishig Sambuughin | Mingqiang Ren | ... | Patricia A. Deuster

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 2746347
- Case Report

11p15.4 Microdeletion Associates with Hemihypertrophy

Surasak Puvabanditsin | Mehrin Sadiq | ... | Rajeev Mehta

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 7536832
- Case Report

Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome

Kara Nadeau | Michele Brule

3|4|5|6|7|8|9|10

Check your manuscript for errors before submitting

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.