10 results on '"Wessels, Marja W"'
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2. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
3. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
4. Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
5. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
6. Identification of RNA binding motif proteins essential for cardiovascular development
7. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
8. 5q11.2 deletion in a patient with tracheal agenesis
9. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
10. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
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