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American Journal of Human Genetics
|
May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Stephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.
Nature Communications
|
June 3, 2020
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma
Jiyeon Choi, Tongwu Zhang, Andrew Vu, et al.
European Urology
|
April 23, 2025
Bladder Preservation Strategies in Muscle-invasive Bladder Cancer: Recommendations from the International Bladder Cancer Group
Shilpa Gupta, Patrick J Hensley, Roger Li, et al.
Nature Communications
|
March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
Ryan M Baxley, Wendy Leung, Megan M Schmit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette Piard, Lara Hawkes, Mathieu Milh, et al.
Brain : a Journal of Neurology
|
October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Robert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
CMAJ Open
|
March 18, 2021
Development of the Canadian COVID-19 Emergency Department Rapid Response Network population-based registry: a methodology study
Corinne M Hohl, Rhonda J Rosychuk, Andrew D McRae, et al.
Journal of Medical Genetics
|
November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
Nature
|
February 12, 2025
Direct experimental constraints on the spatial extent of a neutrino wavepacket
Joseph Smolsky, Kyle G Leach, Ryan Abells, et al.
Page
of 33
Search research articles
Search
Showing results (301-310 of 321) with videos related to
Sort By:
Page
of 33
American Journal of Human Genetics
|
May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Stephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.
Nature Communications
|
June 3, 2020
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma
Jiyeon Choi, Tongwu Zhang, Andrew Vu, et al.
European Urology
|
April 23, 2025
Bladder Preservation Strategies in Muscle-invasive Bladder Cancer: Recommendations from the International Bladder Cancer Group
Shilpa Gupta, Patrick J Hensley, Roger Li, et al.
Nature Communications
|
March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
Ryan M Baxley, Wendy Leung, Megan M Schmit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette Piard, Lara Hawkes, Mathieu Milh, et al.
Brain : a Journal of Neurology
|
October 31, 2012
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Robert D S Pitceathly, Conrad Smith, Carl Fratter, et al.
CMAJ Open
|
March 18, 2021
Development of the Canadian COVID-19 Emergency Department Rapid Response Network population-based registry: a methodology study
Corinne M Hohl, Rhonda J Rosychuk, Andrew D McRae, et al.
Journal of Medical Genetics
|
November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.
Nature
|
February 12, 2025
Direct experimental constraints on the spatial extent of a neutrino wavepacket
Joseph Smolsky, Kyle G Leach, Ryan Abells, et al.
Page
of 33