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American Journal of Medical Genetics. Part A
|
November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors
Matthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 21, 2024
Family Lore, a Variant of Uncertain Significance, and CADASIL
Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, et al.
Muscle & Nerve
|
April 6, 2013
C7 nerve root sensory distribution in peripheral nerves: a bold functional magnetic resonance imaging investigation at 9.4 T
Rupeng Li, Jacques A Machol, Xiping Liu, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Yoel Gofin, Laura Palmer Mackay, Keren Machol, et al.
Human Genomics
|
December 21, 2021
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
Daniel D Domogala, Tomasz Gambin, Roni Zemet, et al.
BMC Neurology
|
March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
Ameya S Walimbe, Keren Machol, Stephen F Kralik, et al.
Journal of Brachial Plexus and Peripheral Nerve Injury
|
May 11, 2013
Cortical plasticity induced by different degrees of peripheral nerve injuries: a rat functional magnetic resonance imaging study under 9.4 Tesla
Rupeng Li, Patrick C Hettinger, Jacques A Machol, et al.
Molecular Cell
|
September 12, 2017
Static and Dynamic DNA Loops form AP-1-Bound Activation Hubs during Macrophage Development
Douglas H Phanstiel, Kevin Van Bortle, Damek Spacek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
July 12, 2026
Bone phenotype in a mouse model of Classical Ehlers Danlos syndrome with Col5a1 haploinsufficiency
Keren Machol, Catherine G Ambrose, Deidre N Meyers, et al.
Applied Optics
|
June 5, 2004
Preliminary measurements with an automated compact differential absorption lidar for the profiling of water vapor
Janet L Machol, Tom Ayers, Karl T Schwenz, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 56) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors
Matthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 21, 2024
Family Lore, a Variant of Uncertain Significance, and CADASIL
Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, et al.
Muscle & Nerve
|
April 6, 2013
C7 nerve root sensory distribution in peripheral nerves: a bold functional magnetic resonance imaging investigation at 9.4 T
Rupeng Li, Jacques A Machol, Xiping Liu, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Yoel Gofin, Laura Palmer Mackay, Keren Machol, et al.
Human Genomics
|
December 21, 2021
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
Daniel D Domogala, Tomasz Gambin, Roni Zemet, et al.
BMC Neurology
|
March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
Ameya S Walimbe, Keren Machol, Stephen F Kralik, et al.
Journal of Brachial Plexus and Peripheral Nerve Injury
|
May 11, 2013
Cortical plasticity induced by different degrees of peripheral nerve injuries: a rat functional magnetic resonance imaging study under 9.4 Tesla
Rupeng Li, Patrick C Hettinger, Jacques A Machol, et al.
Molecular Cell
|
September 12, 2017
Static and Dynamic DNA Loops form AP-1-Bound Activation Hubs during Macrophage Development
Douglas H Phanstiel, Kevin Van Bortle, Damek Spacek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
July 12, 2026
Bone phenotype in a mouse model of Classical Ehlers Danlos syndrome with Col5a1 haploinsufficiency
Keren Machol, Catherine G Ambrose, Deidre N Meyers, et al.
Applied Optics
|
June 5, 2004
Preliminary measurements with an automated compact differential absorption lidar for the profiling of water vapor
Janet L Machol, Tom Ayers, Karl T Schwenz, et al.
Page
of 6