Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 659016
  • - Case Report

Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

Elenice Ferreira Bastos | Lidiane Alice Silva | ... | Teresa de Souza Fernandez
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 172408
  • - Case Report

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Amel Al-Murrani | Fern Ashton | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 578018
  • - Case Report

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Marcelo Razera Baruffi | Deise Helena de Souza | ... | Danilo Moretti-Ferreira
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 640563
  • - Case Report

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

Lakshmi Rao Kandukuri | Venkata Padmalatha | ... | Lalji Singh
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 280813
  • - Case Report

Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Tri Indah Winarni | Andrea Schneider | ... | Randi J. Hagerman
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 186532
  • - Case Report

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

Marina Araújo Fonzar Hernandes | Terezinha de Jesus Marques-Salles | ... | Maria Luiza Macedo Silva
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 681747
  • - Case Report

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

Attila Szvetko | Nicole Martin | ... | Stephen Withers
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 131768
  • - Case Report

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Omid Kohannim | Jane Peredo | ... | Fabiola Quintero-Rivera
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 143132
  • - Case Report

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Tanjung A. Sumekar | Aneel A. Ashrani | ... | Randi J. Hagerman
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 898706
  • - Case Report

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Rachel O'Connor | Amel Al-Murrani | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 428714
  • - Case Report

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

E. M. Abdalla | H. Morsy
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 768610
  • - Case Report

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

N. H. Birkebæk | J. S. Sørensen | ... | T. Hansen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 306072
  • - Case Report

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Diana C. Darcy | Scott Rosenthal | Robert J. Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 396450
  • - Case Report

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Bani Bandana Ganguly | Vijay Kadam | Nitin N. Kadam
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 839650
  • - Case Report

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Sheetal Sharda | Inusha Panigrahi | Ram Kumar Marwaha
Case Reports in Genetics
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