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PubMed 22301702 Clinical assessment of PTEN loss in endometrial carcinoma: immunohistochemistry outperforms gene sequencing. PTEN (phosphatase and tensin homolog) is a tumor suppressor that negatively regulates the P 2.11 KB 2015-11-26 9 0 2021-12-23
PubMed 22633639 Two novel missense mutations observed in nonketotic hyperglycinemia. Nonketotic hyperglycinemia, also known as glycine encephalopathy, is an autosomal recessive disorder of an inborn error of the glyc 1001 Bytes 2015-11-26 18 0 2021-12-23
PubMed 22669887 Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first t 570 Bytes 2015-11-26 17 0 2021-12-23
PubMed 22946725 Complex single gene disorders and epilepsy. Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The geneti 963 Bytes 2015-11-26 9 0 2021-12-23
PubMed 22954281 A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy. Mitochondria provide an environment conducive to mutations in DNA molecules (mtDNA). Analys 1.19 KB 2015-11-26 12 0 2021-12-23
PubMed 23223867 Decrease in high on-treatment platelet reactivity (HPR) prevalence on switching from clopidogrel to prasugrel: insights from the switching anti-platelet (SWAP) study. The prevalence of high platelet r 1.86 KB 2015-11-27 8 0 2021-12-23
PubMed 23182699 Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. White sponge nevus (WSN) is a rare autosomal dominant disorder characterized by white plaques of oral mucosa; it is benign c 1.31 KB 2015-11-27 18 5 2021-12-23
PubMed 23085304 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of seve 967 Bytes 2015-11-27 16 0 2021-12-23
PubMed 10640961 Percutaneous microwave coagulation therapy for patients with primary and metastatic hepatic tumors during interruption of hepatic blood flow. BACKGROUND: Although percutaneous microwave coagulation is 2.11 KB 2015-11-28 8 0 2021-12-23
PubMed 10680485 [Correction of nasal septal deformities of the unilateral cleft lip]. OBJECTIVE: Septal deformities are very common in patients with unilateral cleft lip nose. The deformities are influential on the m 835 Bytes 2015-11-28 7 0 2021-12-23