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PubMed 30128655 Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three 1.26 KB 9 0 show
PubMed 30124556 Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. OBJECTIVES: To investigat 975 Bytes 3 0 show
PubMed 30081849 Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome. BACKGROUND: Rett syndrome (RT 1.61 KB 9 0 show
PubMed 30072168 Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: No 1.81 KB 3 0 show
PubMed 30056071 Molecular genetic study of Calpainopathy in Iran. INTRODUCTION: Calpainopathy is an autosomal recess 1.65 KB 3 0 show
PubMed 30041081 A novel EPM2A mutation yields a slow progression form of Lafora disease. Lafora disease (LD, OMIM 25 1.83 KB 3 0 show
PubMed 30036279 Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of t 1.59 KB 9 0 show
PubMed 30031150 Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental diso 751 Bytes 9 0 show
PubMed 29989875 The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in th 936 Bytes 3 0 show
PubMed 29987844 Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals 1.72 KB 3 0 show