MED is caused by abnormalities in type IX collagen and cartilage oligomeric matrix protein [14]. Most of patients develop deformities of the extremities during...
Tag - Dysplasia
Stoll BJ, Hansen NI, Bell EF, Walsh MC, Carlo WA, Shankaran S, Laptook AR, Sanchez PJ, Van Meurs KP, Wyckoff M, et al. Trends in Care Practices, Morbidity, and...
The prenatal diagnosis of FSD is important at the second trimester of gestation, however, it is still challenging due to diverse clinical and genetic...
DNA and RNA isolation DNA was extracted from proband’s blood and parents’ buccal smear samples using Gentra Puregene Blood Kit (Qiagen, Germantown, MD). DNA...
1. Introduction Focal cortical dysplasia (FCD) is one of the most common causes of refractory epilepsy (1). Surgical excision of epileptogenic foci is an...
A Corrigendum on Use of autologous cord blood mononuclear cells infusion for the prevention of bronchopulmonary dysplasia in extremely preterm neonates: a...
1. Introduction Pug dogs are a screw-tailed dog breed over-represented for thoracic vertebral malformations, including caudal articular process (CAP) dysplasia...
We have shown that the WNT molecular pathway has a complex behavior both in MRI-visible FCD IIA tissue and in the NAAC. Patterns of expression of many genes in...
Annual Review of Genomics and Human Genetics, Volume 24, Issue 1, Page 225-253, August 2023.
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