Case Reports in Genetics

Table of Contents

  • 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 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 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 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 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 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 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
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 6968395
  • - Case Report

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Antoneicka L. Harris | Patrick R. Blackburn | ... | Paldeep S. Atwal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 1513534
  • - Case Report

Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

Sabrina C. Burn | Kali Swift | Maria Palmquist
Case Reports in Genetics
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Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.