Case Reports in Genetics

Table of Contents

  • 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 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 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 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 -
  • Special Issue
  • Volume 2016
  • - Article ID 6046351
  • - Case Report

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Trupti Kale | Melissa Philip
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 4645716
  • - Case Report

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

C. S. Paththinige | N. D. Sirisena | ... | V. H. W. Dissanayake
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 5251912
  • - Case Report

Adult Prader-Willi Syndrome: An Update on Management

Luk Ho-Ming
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 3056053
  • - Case Report

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Euthymia Vargiami | Athina Ververi | ... | Dimitrios I. Zafeiriou
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 9280812
  • - Case Report

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Abhisek Swaika | Nicole J. Boczek | ... | Sikander Ailawadhi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 5208312
  • - Case Report

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Theodoros Georgiou | Gavriella Mavrikiou | ... | George A. Tanteles
Case Reports in Genetics
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