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Autism is a heterogeneous disorder that can reveal a specific geneticdisease.
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Cancer is a geneticdisease resulting from germline or somatic genetic aberrations.
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Sharon Bernardi lost all seven of her children to a rare geneticdisease.
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This finding may contribute to clinical treatment of geneticdisease or tissue repair.
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The best-fit geneticdisease model for this marker is a recessive genetic model.
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I have xeroderma pigmentosum-XPfor short- arareand frequently fatal geneticdisorder.
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This is a geneticdisorder that most people have never heard of.
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Beta-thalassemia is a geneticdisorder caused by mutations in the beta-globin gene.
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Are these advantages as important as removing a geneticdisorder from my genome?
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Let's pretend I carry the gene responsible for a geneticdisorder.
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Elevated expression of c-Myc is a frequent geneticabnormality seen in this malignancy.
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Activating mutations in ras genes are a common geneticabnormality in human malignancies.
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It's a geneticabnormality.' I watch her reach into the fridge, rummaging around.
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Understanding specific geneticabnormality may potentially lead to better treatment strategies in these patients.
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Sebaceous carcinoma is sometimes found concurrently with visceral cancers and a geneticabnormality, Muir-Torre syndrome.
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So, could this be some kind of congenitaldisease that causes dementia-likeearly Alzheimer's?
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Heterozygous mutation of the CHD7 gene causes a severe congenitaldisease known as CHARGE syndrome.
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Coronary artery fistula is an uncommon congenitaldisease that requires invasive treatment for symptomatic patients.
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There is a congenitaldisease called cretinism which essentially is due to a lack of thyroid secretion.
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Adverse events continue to be the major challenge, especially among the young critically ill children with complex congenitaldisease.
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Mutations responsible for inheriteddisease may act by disrupting normal transcriptional splicing.
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Cystic fibrosis is the most common life-threatening inheriteddisease in Ireland.
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Cystic fibrosis is Ireland's most common life-threatening genetically inheriteddisease.
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So Tessie Wartliz was suffering from an inheriteddisease commonly called "Greed."
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Fanconi anemia (FA) is a recessive inheriteddisease characterized by defective DNA repair.
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The couple's eldest daughter Taya did not suffer from the inheriteddisorder.
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The inheriteddisorder limits the blood's ability to carry oxygen throughout the body.
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Charcot-Marie-Tooth disease is the most common inheriteddisorder of the peripheral nervous system.
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Here, we resolve the genetic basis of this recessively inheriteddisorder.
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The inheriteddisorder causes cumulative severe damage to the lungs.
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I want to know if it could have been a hereditarydisease.
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A low origin is like an hereditarydisease-itwill bear no strain.
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Some terrible hereditarydisease, are we planning a trip to the moon?
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I will refrain, for instance, from bringing up the subject of hereditarydisease.
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Medical Matters: Medicine, like politics, can be a hereditarydisease.
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I have a hereditarycondition called Stickler Syndrome.
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The discovery of the underlying gene could be helpful for the understanding of this heterogeneous hereditarycondition.
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Albinism is a rare, hereditarycondition that leads to a lack of pigmentation in the hair, skin and eyes.
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The first is caused by a hereditarycondition which causes the body to absorb too much iron from the digestive system.
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His autopsy found the Olympique Lyonnais player suffered from hypertrophic cardiomyopathy, a hereditarycondition which increases the risk of collapse during exercise.
Usage of genetic defect in English
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It must have been a geneticdefect, because she was only twenty-two.
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Peutz-Jeghers syndrome is an uncommon geneticdefect in the signal pathways of growth.
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The geneticdefect in a number of rare disorders of metal metabolism remains elusive.
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We report a novel geneticdefect in a patient with type I Glanzmann thrombasthenia.
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This geneticdefect inevitably impacts in vivo sensitivity to PERV infection of these species.
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No geneticdefect was found in the 4 patients with other malignancies and thrombosis.
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A geneticdefect in the protein lamin A will make their cells fall apart.
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The geneticdefect and biochemical abnormalities have now been defined.
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The authors identified the geneticdefect underlying hypoPP in 33% of individuals tested.
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A common geneticdefect in nicotine metabolism decreases smoking.
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Objective: We sought to characterize the geneticdefect involved in a new form of X-linked immunodeficiency.
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The observed changes represent a primary geneticdefect, an adaptive response, or a contribution of both.
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Charlie has a very rare mitochondrial disease caused by a geneticdefect inherited from his parents.
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He was born with haemophilia A, a geneticdefect that means his blood did not clot.
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And as much as he'd like to blame her mother for that geneticdefect, he couldn't.
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In both cases, a two-step geneticdefect may explain the variability in clinical outcome and pathological findings.