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Mutagenic And Recombinogenic Assessment Of Widely Used Pesticides On Drosophila Melanogaster
(2019)The mutagenic potential of selected widely used pesticides: p,p'-dichlorodiphenyltrichloroethane (DDT); fenitrothion; propoxur; deltamethrin, bifenthrin; imidacloprid and thiametoxam was assessed using the wing spot test. ... -
Mutation Analysis In Turkish Phenylketonuria Patients
(British Med Journal Publ Group, 1993)Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: ... -
Mutation Analysis Of Nphs1 In A Worldwide Cohort Of Congenital Nephrotic Syndrome Patients
(Karger, 2012)Background: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more ... -
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ... -
Mutation Analysis Of The Pink1 Gene In 391 Patients With Parkinson Disease
(Amer Medical Assoc, 2008)Objectives: To determine the frequency, distribution, and clinical features of Parkinson disease (PD) with PINK1 mutations. Design: Retrospective clinical and genetic review. Setting: University hospital. Patients: We ... -
Mutation In Exon 1F Of Plec, Leading To Disruption Of Plectin Isoform 1F, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
(Cell Press, 2010)Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping ... -
Mutation In Tor1Aip1 Encoding Lap1B In A Form Of Muscular Dystrophy: A Novel Gene Related To Nuclear Envelopathies
(Pergamon-Elsevier Science Ltd, 2014)We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, ...