Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 585893
  • - Case Report

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

Nicole K. A. Wilson | Yohan Lee | ... | Anjené M. Addington
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 703497
  • - Case Report

Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

M. Aguinaga | I. Llano | ... | S. Kofman Alfaro
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 158086
  • - Case Report

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

Roberto L. P. Mazzaschi | Donald R. Love | ... | Alice George
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 913020
  • - Case Report

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene

Guy Massa | Philippe Gillis | Marianne Schwartz
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 945181
  • - Case Report

Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node

Yu Sun | Yun-Fei Shi | ... | Xiang-Hong Li
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 258978
  • - Case Report

Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

Siri Fredheim | Jannet Svensson | ... | Lotte Brøndum Nielsen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 421582
  • - Case Report

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

R. Curtis Rogers | Bridgette Aufmuth | Stephanie Monesson
Case Reports in Genetics
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