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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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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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.
Uso de genetic abnormality em inglês
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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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Mrs. Sentzke is concerned that the geneticabnormality will affect any other children she might bear.
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Infants who lack this geneticabnormality have an intermediate prognosis and could be treated accordingly on risk-directed protocols.
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Perhaps it is a geneticabnormality.
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It's a geneticabnormality-andvery rare.
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The prenatal test showed a geneticabnormality which was interpreted by their doctor as being a fatal foetal abnormality.
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But say, even further, that when we go through our records, we discover that both children share a specific geneticabnormality.
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A distinct pattern of brain atrophy and neuropathological findings may help to identify other families with FTD-ALS caused by this geneticabnormality.
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CML is characterized by an excessive and unregulated production of white blood cells by the bone marrow due to a geneticabnormality.
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Five years earlier, he had kidnapped six-year-old Martin (Spencer List), who possesses a geneticabnormality that prevents him from feeling physical pain.
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In addition to primary epimutations, a potential indirect geneticabnormality was identified, and both are postulated to be involved in the epigenetic transgenerational inheritance observed.
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The most common geneticabnormality is represented by PIK3CA gene activating mutations, with an overall frequency of 20-40%.