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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2023
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
Joshua Nolan, James Buchanan, John Taylor, et al.
The Journal of Trauma and Acute Care Surgery
|
May 28, 2025
Damage control thoracotomy trends, techniques, and outcomes: An EAST multicenter trial
Anthony D Douglas, Teddy Puzio, Partick Murphy, et al.
Biorxiv : the Preprint Server for Biology
|
June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders
James Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology
|
May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
James Liu, Yi He, Cara Lwin, et al.
Nature Communications
|
July 3, 2026
Contrasting patterns of alpine biodiversity across mountains and taxa worldwide
Lotta Schultz, Ondřej Mottl, L Camila Pacheco-Riaño, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Genome Medicine
|
June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Margot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, et al.
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of 33
Search research articles
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Showing results (311-320 of 321) with videos related to
Sort By:
Page
of 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2023
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
Joshua Nolan, James Buchanan, John Taylor, et al.
The Journal of Trauma and Acute Care Surgery
|
May 28, 2025
Damage control thoracotomy trends, techniques, and outcomes: An EAST multicenter trial
Anthony D Douglas, Teddy Puzio, Partick Murphy, et al.
Biorxiv : the Preprint Server for Biology
|
June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders
James Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology
|
May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
James Liu, Yi He, Cara Lwin, et al.
Nature Communications
|
July 3, 2026
Contrasting patterns of alpine biodiversity across mountains and taxa worldwide
Lotta Schultz, Ondřej Mottl, L Camila Pacheco-Riaño, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Genome Medicine
|
June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Margot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Page
of 33