Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8843410
  • - Case Report

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Manuela Quiroga-Carrillo | Cristian Correa-Arrieta | ... | Fernando Suarez-Obando
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8873219
  • - Case Report

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

G. N. Cerbino | L. Abou Assali | ... | M. V. Rossetti
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8894518
  • - Case Report

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

Maheshi Wijayabandara | Champika Gamakaranage | Dineshani Hettiarachchi
  • 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
 Journal metrics
Acceptance rate50%
Submission to final decision58 days
Acceptance to publication41 days
CiteScore-
Impact Factor-
 Submit

We are committed to sharing findings related to COVID-19 as quickly as possible. We will be providing unlimited waivers of publication charges for accepted research articles as well as case reports and case series related to COVID-19. Review articles are excluded from this waiver policy. Sign up here as a reviewer to help fast-track new submissions.