Case Reports in Genetics

Table of Contents: 2012

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 136582
  • - Case Report

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Donovan Calder | Maryse Etienne-Julan | ... | Jennifer M. Knight-Madden
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 321569
  • - Case Report

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

Norma Elena de León Ojeda | Michel Soriano-Torres | ... | Dunia Bárbara Benítez Ramos
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 153405
  • - Case Report

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Frenny Sheth | Naresh Gohel | ... | Jayesh Sheth
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 247683
  • - Case Report

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Rose H. Mende | David P. Drake | ... | Ben C. J. Hamel
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 949507
  • - Case Report

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Farmaditya E. P. Mundhofir | Helger G. Yntema | ... | Bregje W. M. van Bon
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 878796
  • - Case Report

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

F. Sheth | O. R. Akinde | ... | J. Sheth
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 794075
  • - Case Report

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Javier Sánchez | Lutgardo García-Díaz | ... | Guillermo Antiñolo
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 212065
  • - Case Report

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

Usha R. Dutta | Vijaya Kumar Pidugu | Ashwin Dalal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 428075
  • - Case Report

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Jayesh J. Sheth | Chitra M. Ankleshwaria | ... | Frenny J. Sheth
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 821347
  • - Case Report

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Yuan Wei | Xuefeng Gao | ... | Yangyu Zhao
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 490408
  • - Case Report

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Matthew J. Garabedian | Donna Wallerstein | ... | Robert J. Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2012
  • - Article ID 623860
  • - Case Report

Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

Joana Rita Chora | Helena Simões-Teixeira | ... | Helena Caria
  • 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
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