Case Reports in Genetics

/ Table of Contents: 2013

Table of Contents

Table of Contents: 2013

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 -
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

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