Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 801094
  • - Case Report

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

D. Wong | S. M. Johnson | ... | T. P. Slavin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 951710
  • - Case Report

Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

Veronica Ortega | Christina Mendiola | ... | Gopalrao V. N. Velagaleti
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 823451
  • - Case Report

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Adrian Mc Cormack | Juliet Taylor | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 306098
  • - Case Report

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Francesca Malvestiti | Francesco Benedicenti | ... | Francesca Romana Grati
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 748057
  • - Case Report

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Catarina Dias | Lara Isidoro | ... | Jorge Sales Marques
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 941684
  • - Case Report

Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Piotr K. Janicki | Sonia Vaida | Hamid A. B. AL-Mondhiry
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 260371
  • - Case Report

An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva

Rafael Herrera-Esparza | Deyanira Pacheco-Tovar | ... | Esperanza Avalos-Díaz
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 159143
  • - Case Report

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Tieneka M. Baker | Erica L. Sturm | ... | Scott M. Petersen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 462896
  • - Case Report

A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature

Deniz Gören Şahin | Beyhan Durak | ... | Olga Meltem Akay
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 578202
  • - Case Report

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Lindsay B. Henderson | Virginia L. Corson | ... | Cheryl DeScipio
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 349725
  • - Case Report

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

M. A. Ramirez-Garcia | O. F. Chacon-Camacho | ... | J. C. Zenteno
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 105052
  • - Case Report

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

Anna Dabkowska-Huc | Piotr Skalba | Antoni Pyrkosz
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 353028
  • - Case Report

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

Ivan Y. Iourov | Svetlana G. Vorsanova | ... | Yuri B. Yurov
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 573841
  • - Case Report

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Emma Colao | Teresa Granata | ... | Paola Malatesta
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 834605
  • - Case Report

Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

Mohammad Al-Haggar | Nermin Ahmad | ... | Dina Abdel-Hady
Case Reports in Genetics
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Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.