Case Reports in Genetics

/ Table of Contents: 2020

Table of Contents

Table of Contents: 2020

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 7353452
- Case Report

Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review

Jamie H. Choi | Rachel Li | ... | Natario L. Couser

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8217919
- Case Report

“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Anne-Laure Bonnet | Kevin Sceosole | ... | Celine Gaucher

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8868458
- Case Report

Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome

Nihit Kumar | Yuri A. Zarate

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 7093409
- Case Report

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Shahzaib Khattak | Meryam Jan | ... | Sohail Khattak

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 7024735
- Case Series

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

E. Barkovich | A. L. Gropman

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 3256539
- Case Report

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

John E. Richter Jr. | Charitha Vadlamudi | ... | Thomas R. Caulfield

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 5957415
- Case Report

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

Thiago Corrêa | Amanda Cristina Venâncio | ... | Mariluce Riegel

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8414857
- Case Report

Behçet Disease-Like Symptoms with a Novel COPA Mutation

E. Anderson | J. Hatch | ... | D. Coman

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 6143050
- Case Report

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

Mohammad M. Al-Qattan | Zuhair A. Rahbeeni | ... | Faris A. S. Alsufayan

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