Search Results - "Deborah LEVENSON" :: K.UTB vyhledávací portál

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Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus: combination of genetic sequencing, maternal blood screening identifies single-gene mutation in vitro

Published in American journal of medical genetics. Part A (01.12.2014)

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Newborn bloodspot retention reinstated in Minnesota: practice expected to benefit larger newborn screening studies, public health, disease research

Published in American journal of medical genetics. Part A (01.09.2014)

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Common genetic variants linked with large percentage of autism risk: study finds spontaneous mutations are less-significant risk factors

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.11.2014)

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Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease: study shows aCGH more effective at detecting potential genetic causes of CHD than other methods

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.03.2014)

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Facial analysis technology aids diagnoses of genetic disorders

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.10.2014)

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Next-generation sequence testing expands research into causes of hearing loss: scientists examine role of multiple mutations in individual cases

Published in American journal of medical genetics. Part A (01.09.2014)

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NIH calls for stronger statistical evidence to support pathogenicity: Geneticists raise concerns about process of identifying genes as possible culprits in disease

Published in American journal of medical genetics. Part A (01.08.2014)

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Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.12.2013)

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New testing guidelines for hearing loss support next-generation sequencing

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.07.2014)

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Mutations in NGLY1 gene linked with new genetic disorder

Published in American journal of medical genetics. Part A (01.07.2014)

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Patients and families generally welcome secondary genomic findings: Support for return of incidental fi ndings may encourage shift toward predictive genetic testing

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.02.2014)

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Whole-exome sequencing strategy proposed as first-line test

by Anon
Published in American journal of medical genetics. Part A (01.06.2016)

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Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1: girls more likely to require treatment for visual decline caused by NF1-related brain tumors

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.05.2014)

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Patient advocates as partners in genetic research: investigators see benefits of forging relationships with disease advocacy groups

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.05.2014)

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Patient advocates as partners in genetic research

Published in American journal of medical genetics. Part A (01.05.2014)

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Cell-free Fetal DNA Tests Appropriately Used by Geneticists, Often Misunderstood by Patients

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.04.2014)

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Cell-free fetal DNA tests appropriately used by geneticists, often misunderstood by patients: survey finds many patients incorrectly think prenatal screening test is diagnostic

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.04.2014)

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Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.03.2014)

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Journal Article

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Patients and families generally welcome secondary genomic findings

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.02.2014)

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Whole‐exome sequencing emerges as clinical diagnostic tool

by Levenson, Deborah
Published in American journal of medical genetics. Part A (01.01.2014)

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