Case Reports in Genetics

Table of Contents: 2017

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 7803136
  • - Case Report

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Marie-Emmanuelle Naud | Lucie Tosca | ... | Gérard Tachdjian
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 2357282
  • - Case Report

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Thi Kim Lien Nguyen | Van Dem Pham | ... | Huy Hoang Nguyen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 2625030
  • - Case Report

Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

Nagendra Chaudhary | Sandeep Shrestha | Hemant Kumar Halwai
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 1048717
  • - Case Report

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

Ana Isabel Sánchez | Alejandra Rincón | ... | Fernando Suárez-Obando
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 4364216
  • - Case Report

A Newborn with Panhypopituitarism and Seizures

Trupti Kale | Rachit Patil | Ramesh Pandit
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 1587610
  • - Case Report

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

Carlos Sánchez-Montenegro | Alejandra Vilanova-Sánchez | ... | Leopoldo Martínez-Martínez
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 7263780
  • - Case Report

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Michael T. Zimmermann | Raul A. Urrutia | ... | Paldeep S. Atwal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 7281023
  • - Case Report

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

Violet I. Wallerstein | Robert Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 2706098
  • - Case Report

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Kimia Najafi | Roxana Kariminejad | ... | Mohamad Hassan Kariminejad
Case Reports in Genetics
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