Case Reports in Genetics

Table of Contents: 2015

  • 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 -
  • Special Issue
  • Volume 2015
  • - Article ID 932651
  • - Case Report

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

Marcello Marcì | Angela Guarina | ... | Nicola Sanfilippo
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 242891
  • - Case Report

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

George A. Tanteles | Elpiniki Nikolaou | ... | Savvas S. Papacostas
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 192071
  • - Case Report

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

Adrian Mc Cormack | Cynthia Sharpe | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 926545
  • - Case Report

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

R. Hochstenbach | G. C. M. L. Page-Christiaens | ... | G. H. Schuring-Blom
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 876348
  • - Case Report

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

Ana Belén de la Hoz | Hiart Maortua | ... | María-Isabel Tejada
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 474097
  • - Case Report

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

Angelika J. Dawson | Janice Cox | ... | Elizabeth Spriggs
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 219691
  • - Case Report

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

Leema Reddy Peddareddygari | Raji P. Grewal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 950574
  • - Case Report

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

Sefa Resim | Faruk Kucukdurmaz | ... | Can Benlioglu
Case Reports in Genetics
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