Case Reports in Genetics

Table of Contents: 2018

  • 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 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 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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