Case Reports in Genetics: Vol 2011, No 1

I consent to Wiley Online Library’s Terms of Use and processing of my personal data as disclosed in Wiley’s Privacy Policy.I consent to my personal information being transferred outside of the People’s Republic of China as laid out in Wiley’s Privacy Policy.*(Optional) I consent to special offers, newsletter & promotions from Wiley. See Privacy Policy for more details.

Tools

Submit an article

Journal Metrics

Case Reports in Genetics

Journal list menu

Tools

Follow journal

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

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

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

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

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

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

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

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

Tools

Related Titles

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

Case Reports in Genetics

Journal list menu

Tools

Follow journal

Download PDFs

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

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

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

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

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

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

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

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

Sign up for email alerts

Tools

Related Titles