Your Messages Inbox
Most Viewed Abstracts
1. Report Shows Shift in Starting Salaries for Physicians 2. Recommendations on the use of 18F-FDG PET in oncology 3. Gene expression signatures, clinicopathological features, and individualized therapy in breast cancer 4. AHA Guidelines on Cardiac CT for Assessing Coronary Artery Disease 5. Rapid correction of low vitamin D status in nursing home residents
Top Ten Searches
etanercept hypertension chf antiphospholipid fibrosis mrsa scid renal cell rickets counterpulsationYour Article Summary
See Latest ArticlesGenotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Journal of Medical Genetics, 11/10/09
Vos YJ et al. – The authors developed a comprehensive mutation detection system with a detection rate of almost 20% in unselected patients and up to 85% in a selected group. Using the patients’ clinical characteristics and family history, clinicians can accurately predict the chance of finding a mutation. A genotype–phenotype correlation was confirmed. The occurrence of (maternal) germline mosaicism was proven.
Related Articles
Successful Treatment With Sumatriptan in a Case With Cyclic Vomiting Syndrome Combined With 18q– Syndrome
Journal of Child Neurology, 10/02/09
Relevance Score: 47%
Common infectious agents prevalence in antiphospholipid syndrome
Lupus, 11/05/09
Relevance Score: 46%
A Prospective Investigation of Biomechanical Risk Factors for Patellofemoral Pain Syndrome: The Joint Undertaking to Monitor and Prevent ACL Injury (JUMP-ACL) Cohort
American Journal of Sports Medicine, 11/02/09
Relevance Score: 46%
Adult-onset Still’s disease, Schnitzler syndrome, and autoinflammatory syndromes in adulthood
Zeitschrift für Rheumatologie, 10/29/09
Relevance Score: 46%
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
American Journal of Medical Genetics, 10/23/09
Relevance Score: 46%
Today in Basic Science/Genetics...keeping you current
Receive free subspecialty "5-minute updates" via email
Lapatinib Plus Capecitabine Resolved Human Epidermal Growth Factor Receptor 2-Positive Brain Metastases
American Journal of Therapeutics, 12/04/09
Increased mRNA expression of collagen V gene in pulmonary fibrosis of systemic sclerosis
European Journal of Clinical Investigation, 12/04/09
Molecular Genomic Approaches to Infectious Diseases in Resource-Limited Settings
PLoS Medicine, 12/04/09
Sponsor
Article Search
Sponsor
Sponsor