Case Reports in Genetics

/ Table of Contents

Table of Contents

Table of Contents

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8811296
- Case Report

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

Carolyn G. Ahlers | Quoc-Huy Trinh | Martin Montenovo

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8872294
- Case Report

A Novel Mutation of Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Eleni Agakidou | Charalampos Agakidis | ... | Kosmas Sarafidis

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8857628
- Case Report

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

Leia A. Peterman | Gail H. Vance | ... | David D. Weaver

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 1731720
- Case Report

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Kiichi Takahashi | Hiroyuki Adachi | ... | Tsutomu Takahashi

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8831006
- Case Report

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature

Cristina Aparecida Troques da Silveira Mitteldorf | Rafael Sarlo Vilela | ... | Renata de Almeida Coudry

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 2071738
- Case Report

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

Xiafei Dai | Rong Luo | ... | Xiaoping Li

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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