Genetics in Medicine

@GIMJournal

Genetics in Medicine, official journal of the American College of Medical Genetics and Genomics cover by Adriana G. Prat

Bethesda, MD
nature.com/gim/index.html
Vrijeme pridruživanja: veljača 2015.
979 fotografija ili videozapisa Fotografije i videozapisi

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  1. prije 2 sata

    The February issue of Genetics in Medicine is now available online Cover art: Map of the End of the World by Adriana G. Prat

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  2. 3. velj

    A novel multiple malformations disorder caused by specific missense variants in KMT2D is distinct from Kabuki syndrome

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  3. 31. sij

    Phenotype of Saul-Wilson syndrome is remarkably uniform

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  4. 30. sij

    Potential treatment for multiple acyl-CoA dehydrogenase deficiency (MADD)-like patients with D,L-3-HB

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  5. 29. sij

    Labs performed well on proficiency testing in screening for with cell-free DNA

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  6. 27. sij

    Improving variant classification of and missense VUS recognizing that "coldspots" do not typically harbor disease causing variants

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  7. 24. sij

    RNA sequencing as a frontline test for Cornelia de Lange syndrome and related disorders

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  8. 23. sij

    More may be better. Higher dosing of recombinant human acid-α glucosidase (rhGAA) appears safe and may improve outcomes in early-onset disease

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  9. 22. sij

    Female FMR1 premutation carriers can experience health issues beyond the previously well-established premutation-associated disorders

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  10. 17. sij

    Genetics in Medicine features subject-specific and curated primers on a number of therapeutic specialties. Check out our most recently published articles on and

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  11. 16. sij

    Family and personal history of cancer informs the pathogenicity of variants of unknown significance in and

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  12. 15. sij

    Relatives do not act quickly on even after learning about a family member’s pathogenic cancer variant

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  13. 14. sij

    Parents value genome or exome sequencing when their child might have a genetic disorder

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  14. 13. sij

    As more people access , more variants of unknown significance (VUS) are uncovered. On this month's GenePod, Dr. David Goldgar talks about predicting the pathogenicity of BRCA1 and 2 VUS using family and personal history

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  15. 10. sij

    Genetic testing as a frontline diagnostic tool for infants and children with inherited eye disorders

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  16. 9. sij

    January : "The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom"

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  17. 9. sij

    Join in celebrating Week, March 17-21, 2020. Visit the medical genetics awareness web pages for resources and see ways you can participate and contribute to recognizing the importance of professionals at

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  18. proslijedio/la je Tweet
    8. sij

    Registration is open for the first ACMG Genomics Case Conference of the new year, “Expanding the Etiology of Holoprosencephaly with Next Generation Sequencing.” Hosted by , join us January 15, 2 PM EST. Register at

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  19. proslijedio/la je Tweet
    8. sij

    Just published in , “The Use of Fetal Exome Sequencing in Prenatal Diagnosis: A Points to Consider Document of the American College of Medical Genetics and Genomics (ACMG)”

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  20. proslijedio/la je Tweet
    8. sij

    “Exome sequencing may be considered when a diagnosis cannot be obtained using routine prenatal methods in a fetus with one or more significant anomalies,” says ACMG in new document in

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