Case Reports in Genetics

Table of Contents: 2020

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 6630300
  • - Case Series

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

D. Hettiarachchi | Hetalkumar Panchal | ... | V. H. W. Dissanayake
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8813344
  • - Case Report

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Imane Smaili | Imane Hajjaj | ... | Ahmed Bouhouche
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8897541
  • - Case Series

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Marie Zerjav | Autumn DiAdamo | ... | Peining Li
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8860863
  • - Case Report

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

Misty Ruppert | John Pyun | ... | David Sierpina
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 8877722
  • - Case Report

Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

Hiroshi Kobayashi | Masahiro Shin | ... | Sakae Tanaka
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2020
  • - Article ID 4708976
  • - Corrigendum

Corrigendum to “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 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
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Article of the Year Award: Outstanding research contributions of 2021, as selected by our Chief Editors. Read the winning articles.