Case Reports in Genetics

Table of Contents: 2016

  • 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 -
  • Special Issue
  • Volume 2016
  • - Article ID 4140780
  • - Case Report

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Dong Li | Elizabeth Bhoj | ... | Hakon Hakonarson
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 7397405
  • - Case Report

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

Yang Cao | Nicole L. Hoppman | ... | Umut Aypar
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 2501741
  • - Case Report

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

Jennifer Carter | Melinda Zombor | ... | Jonathan J. Waters
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 2861653
  • - Case Report

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Shirley Lo-A-Njoe | Lars T. van der Veken | ... | Mieke M. van Haelst
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 9790169
  • - Case Report

Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Ho-Ming Luk
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 9814928
  • - Case Report

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Noura Biha | S. M. Ghaber | ... | Corinne Collet
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2016
  • - Article ID 8154910
  • - Case Report

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Anca Zimmermann | Heidi Rossmann | ... | Paula Grigorescu-Sido
Case Reports in Genetics
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