Genetics

	11/04/2009	Rapid and Persistent Selection of the K103N Mutation as a Majority Quasispecies in a HIV1-Patient Exposed to Efavirenz for Three Weeks: A Case Report and Review of the Literature
	10/22/2009	A Patient with Typical Clinical Features of Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) but Without an Obvious Genetic Cause: A Case Report
	10/12/2009	Familial Esophageal Atresia
	10/07/2009	Distal Myopathy in Multi-minicore Disease
	09/03/2009	Compound Heterozygous Mutation of Aquaporin 2 Gene in Woman Patient with Congenital Nephrogenic Diabetes Insipidus
	08/24/2009	Microdeletion of 6q16.1 Encompassing EPHA7 in a Child with Mild Neurological Abnormalities and Dysmorphic Features: A Case Report
	08/11/2009	A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure
	08/05/2009	Multiple Myeloma with a Variant Burkitt-type Translocation, t(2;8)(p12;q24), Associated with Hyperammonemia
	08/03/2009	A Novel Initial Codon Mutation of the Thiazide-Sensitive Na-Cl Cotransporter Gene in a Japanese Patient with Gitelman's Syndrome
	07/28/2009	Large Family with Both Parents Affected by Distinct BRCA1 Mutations: Implications for Genetic Testing
	07/27/2009	Unusual Presentation of Lynch Syndrome
	07/23/2009	Ascending Aortic Aneurysm in a Patient with Bicuspid Aortic Valve, Positive History of Systemic Autoimmune Diseases and Common Genetic Factors: A Case Report
	07/14/2009	Clinically Abnormal Case with Paternally Derived Partial Trisomy 8p23.3 to 8p12 Including Maternal Isodisomy of 8p23.3: A Case Report
	07/10/2009	Adult B Lymphoblastic Leukaemia / Lymphoma With Hypodiploidy (-9) and a Novel Chromosomal Translocation t(7;12)(q22;p13) Presenting with Severe Eosinophilia - Case Report and Review of Literature
	06/29/2009	Laryngeal Manifestations of Haemochromatosis
	06/19/2009	The Clinicopathologic Observation, C-KIT Gene Mutation and Clonal Status of Gastrointestinal Stromal Tumor in the Sacrum
	06/05/2009	Xp11.2 Translocation Renal Cell Carcinoma Occurring During Pregnancy with a Novel Translocation Involving Chromosome 19: A Case Report with Review of the Literature
	05/26/2009	Medullary Sponge Kidney Presenting in a Neonate with Distal Renal Tubular Acidosis and Failure to Thrive: A Case Report
	05/22/2009	Recessive Congenital Myotonia Resulting From Maternal Isodisomy of Chromosome 7: A Case Report
	05/08/2009	Oculopharyngeal Muscular Dystrophy as a Rare Differential Diagnosis for Unexplained Dysphagia: A Case Report
	05/01/2009	Symptomatic Hypoparathyroidism Based on a 22q11 Deletion First Diagnosed in a 43-Year-Old Woman
	04/27/2009	Molecular and Phenotypic Variability in Consecutive Blast Crises in CML Patient
	03/12/2009	11p Microdeletion Including WT1 but not PAX6, Presenting with Cataract, Mental Retardation, Genital Abnormalities and Seizures: Case Report
	03/03/2009	A Novel PTCH1 Germline Mutation Distinguishes Basal Cell Carcinoma from Basaloid Follicular Hamartoma: A Case Report
	02/26/2009	Osteochondritis Dissecans and Osgood Schlatter Disease in a Family with Stickler Syndrome
	02/17/2009	Cytomegalovirus-Associated Splenic Infarcts in a Female Patient with Factor V Leiden Mutation: A Case Report
	02/13/2009	Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Genotyped Hypertrophic Cardiomyopathy with Normal Phenotype
	01/27/2009	Male Infertility Related to an Aberrant Karyotype 47,XYY: Four Case Reports
	01/19/2009	Schizophrenia Spectrum Disorders in a Nigerian Family: 4 Case Reports
	01/16/2009	Array Comparative Genomic Hybridisation-Based Identification of Two Imbalances of Chromosome 1p in a 9-Year-Old Girl with a Monosomy 1p36 Related Phenotype and a Family History of Learning Difficulties: A Case Report