Search Results - "Wolz, W"
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Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex
Published in Thrombosis and haemostasis (01-12-2000)“…Hereditary combined deficiency of the vitamin K dependent coagulation factors is a rare bleeding disorder. To date, only eleven families have been reported in…”
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2
The human gene for alkaptonuria (AKU) maps to chromosome 3q
Published in Genomics (San Diego, Calif.) (01-01-1994)“…Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large…”
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3
Genomic Sequence and Organization of the Human Gene for Cytochrome c Oxidase Subunit (COX7A1) VIIa-M
Published in Genomics (San Diego, Calif.) (15-10-1997)“…Cytochrome c oxidase (COX, EC 1.9.3.1), the last component of the mitochondrial electron transfer chain, is built up by 13 polypeptides; 3 of them are encoded…”
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4
LayDis — an advanced navigation system for electron beam probing
Published in Microelectronic engineering (01-02-1996)“…This paper presents a new tool set called LayDis providing advanced navigation support for chipinternal probing. Although the tool set has been designed…”
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5
Development of test programs in a virtual test environment
Published in Proceedings of 14th VLSI Test Symposium (1996)“…An environment for the efficient development of quality-assured mixed-signal test programs is introduced. The new approach provides links between design and…”
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Conference Proceeding -
6
Denial of visual perception
Published in Brain and cognition (01-05-1991)“…An adult with the diagnosis of cortical blindness, complaining of a complete visual loss of 2 years in duration, was found to have a small preserved visual…”
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7
A complex satellite DNA polymorphism flanking the human ryanodine receptor gene (RYR1)
Published in Cytogenetics and cell genetics (01-01-1996)“…We describe a new highly polymorphic DNA marker flanking the human ryanodine receptor gene (RYR1) at chromosome band 19q13.1. The marker is composed of a 25bp…”
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8
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K–dependent clotting factors to the centromeric region of chromosome 16
Published in Blood (01-11-2002)“…Familial multiple coagulation factor deficiency (FMFD) of factors II, VII, IX, X, protein C, and protein S is a very rare bleeding disorder with autosomal…”
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9
AN APPROACH TO CHIP-INTERNAL CURRENT MONITORING AND MEASUREMENT USING AN ELECTRON BEAM TESTER
Published in 1991, Proceedings. International Test Conference (1991)Get full text
Conference Proceeding -
10
Sex Roles and Alcohol Consumption: A Research Note
Published in Journal of health and social behavior (01-03-1980)“…This paper examines the effects of marital status, employment, education, family income, and age on the patterns of alcohol consumption of women and men in…”
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11
Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation
Published in American journal of human genetics (01-03-1998)“…Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that is triggered in genetically predisposed individuals by common anesthetics and…”
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12
How to interview supervisory candidates from the ranks
Published in Personnel (New York) (01-09-1980)Get more information
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13
A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees
Published in Human molecular genetics (01-06-1997)“…Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in susceptible individuals on exposure to commonly used inhalational…”
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14
Alcohol problems and the availability of alcohol
Published in Alcoholism, clinical and experimental research (01-10-1979)“…This study assesses the statistical effects of the physical availability of alcohol as measured by the number of liquor store employees per 100,000 persons…”
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15
The prevention of alcoholism: an empirical report on the effects of outlet availability
Published in Alcoholism, clinical and experimental research (01-10-1978)“…Recent studies suggest that alcohol availability as measured by outlet rates is unrelated to per capita consumption or rates of alcoholism in the United…”
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Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
Published in Nature genetics (01-06-1994)“…Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from…”
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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
Published in Human mutation (1998)Get full text
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18
New mutations in the ataxia telangiectasia gene
Published in Human genetics (01-08-1996)“…We report the detection of four new mutations in the ataxia telangiectasia gene (ATM). Reverse-transcribed RNA extracted from cultured cells was analysed for…”
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New mutations in tha ataxia telangiectasia gene
Published in Human genetics (1996)Get full text
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Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
Published in Nature genetics (01-06-1994)Get full text
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