Case Reports in Genetics

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Table of Contents

Table of Contents

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

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 6737938
- Case Report

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Nadia Al-Hashmi | Mohammed Mohammed | ... | Patrick Scott

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 2508345
- Case Report

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

L. Swan | G. Gole | ... | D. Coman

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 1898151
- Case Report

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

Kwo Wei David Ho | Nivedita U. Jerath

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 1381730
- Case Report

A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma

James Blackburn | Dinesh Giri | ... | Senthil Senniappan

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 6308283
- Case Report

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

Kameryn M. Butler | Philip J. Holt | ... | Andrew Escayg

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 1928918
- Case Report

Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children

Rathika Damodara Shenoy | Vijaya Shenoy | Vikram Shetty

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 8296478
- Case Report

Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature

T. Couture | K. Amato | ... | P. Li

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 6184185
- Case Report

A Rare Case of Severe Congenital RYR1-Associated Myopathy

Nicola Laforgia | Manuela Capozza | ... | Nicoletta Resta

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 8657823
- Case Report

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Amber Hildreth | Mark A. Valasek | ... | Sherry C. Huang

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 3028145
- Case Report

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Ivanka Dimova | Ivo Kremensky

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 8090797
- Case Report

Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

Xike Wang | Yue Wu | ... | Yuchuan Wang

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 1369413
- Case Report

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome

Alejandra del Pilar Reyes-de la Rosa | Gustavo Varela-Fascinetto | ... | Verónica Fabiola Morán-Barroso

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 2492437
- Case Report

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion

L. Swan | D. Coman

Case Reports in Genetics -
Special Issue
Volume 2018
- Article ID 6780494
- Case Report

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

Ahmed Mohammad | Haytham Helmi | Paldeep S. Atwal

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