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Case Reports in Genetics

Case Reports in Genetics / Table of Contents

Table of Contents

Table of Contents

  • 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 -
  • Special Issue
  • Volume 2015
  • - Article ID 827656
  • - Case Report

Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation

Ali Sami Gurbuz | Ahmet Salvarci | ... | Ayse Gul Zamani
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 532090
  • - Case Report

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

Holli M. Drendel | Jason E. Pike | ... | Shaochun Bai
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 937201
  • - Case Report

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

Marta Zegre Amorim | Jayne A. L. Houghton | ... | Luis Pereira-da-Silva
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 169482
  • - Case Report

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

Molly B. Sheridan | Elizabeth Wohler | ... | Julie Hoover-Fong
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 738469
  • - Case Report

Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis

Martin Gencik | Josef Finsterer
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 454526
  • - Case Report

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Jessie C. Jacobsen | Emma Glamuzina | ... | Klaus Lehnert
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 496053
  • - Case Report

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

Nivedita U. Jerath | Tiffany Grider | Michael E. Shy
Case Reports in Genetics
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