Case Reports in Genetics

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Table of Contents

Table of Contents

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 -
Special Issue
Volume 2013
- Article ID 279801
- Case Report

Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India

Rupesh R. Sanap | Arundhati S. Athalye | ... | Firuza R. Parikh

Case Reports in Genetics -
Special Issue
Volume 2013
- Article ID 764152
- Case Report

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

M. White | J. Conroy | ... | S. A. Lynch

Case Reports in Genetics -
Special Issue
Volume 2013
- Article ID 592702
- Case Report

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Jonathan Lévy | Jean-Marie Jouannic | ... | Marie-France Portnoï

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

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