Case Reports in Genetics

Table of Contents: 2018

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 2618071
  • - Case Report

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

Kwo Wei David Ho | Nivedita U. Jerath
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 9468049
  • - Case Report

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Salma M. Wakil | Dorota Monies | ... | Saeed A. Bohlega
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 8635698
  • - Case Report

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Ahmed Bouhouche | Houyam Tibar | ... | Elmostafa El Fahime
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 4173704
  • - Case Report

Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene

Charles Volk | Gregory Matwiyoff
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 6898546
  • - Case Report

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait

Nyamkhishig Sambuughin | Mingqiang Ren | ... | Patricia A. Deuster
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 2746347
  • - Case Report

11p15.4 Microdeletion Associates with Hemihypertrophy

Surasak Puvabanditsin | Mehrin Sadiq | ... | Rajeev Mehta
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 7536832
  • - Case Report

Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome

Kara Nadeau | Michele Brule
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2018
  • - Article ID 6737938
  • - Case Report

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Nadia Al-Hashmi | Mohammed Mohammed | ... | Patrick Scott
  • 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 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 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 6184185
  • - Case Report

A Rare Case of Severe Congenital RYR1-Associated Myopathy

Nicola Laforgia | Manuela Capozza | ... | Nicoletta Resta
Case Reports in Genetics
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