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American Journal of Human Genetics
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March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Journal of Medicinal Chemistry
|
May 31, 2017
Design and Discovery of N-(2-Methyl-5'-morpholino-6'-((tetrahydro-2H-pyran-4-yl)oxy)-[3,3'-bipyridin]-5-yl)-3-(trifluoromethyl)benzamide (RAF709): A Potent, Selective, and Efficacious RAF Inhibitor Targeting RAS Mutant Cancers
Gisele A Nishiguchi, Alice Rico, Huw Tanner, et al.
American Journal of Human Genetics
|
January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, , Andrew Thom, et al.
Journal of Medicinal Chemistry
|
March 1, 2022
Discovery and Preclinical Pharmacology of INE963, a Potent and Fast-Acting Blood-Stage Antimalarial with a High Barrier to Resistance and Potential for Single-Dose Cures in Uncomplicated Malaria
Benjamin R Taft, Fumiaki Yokokawa, Tom Kirrane, et al.
JAMA Pediatrics
|
September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
, Ian D Krantz, Livija Medne, et al.
Journal of Medicinal Chemistry
|
May 7, 2019
Design and Discovery of <i>N</i>-(3-(2-(2-Hydroxyethoxy)-6-morpholinopyridin-4-yl)-4-methylphenyl)-2-(trifluoromethyl)isonicotinamide, a Selective, Efficacious, and Well-Tolerated RAF Inhibitor Targeting RAS Mutant Cancers: The Path to the Clinic
Savithri Ramurthy, Benjamin R Taft, Robert J Aversa, et al.
JAMIA Open
|
August 4, 2021
Establishing a multidisciplinary initiative for interoperable electronic health record innovations at an academic medical center
Kensaku Kawamoto, Polina V Kukhareva, Charlene Weir, et al.
Med (New York, N.Y.)
|
February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus
Ann E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Biorxiv : the Preprint Server for Biology
|
March 2, 2022
TARGETED DOWN REGULATION OF CORE MITOCHONDRIAL GENES DURING SARS-COV-2 INFECTION
Joseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
Nature
|
July 15, 2026
Magnetic character of the low-energy enhancement in <sup>70</sup>Zn
E K Ronning, A L Richard, S N Liddick, et al.
Page
of 136
Search research articles
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Showing results (1321-1330 of 1,360) with videos related to
Sort By:
Page
of 136
American Journal of Human Genetics
|
March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Journal of Medicinal Chemistry
|
May 31, 2017
Design and Discovery of N-(2-Methyl-5'-morpholino-6'-((tetrahydro-2H-pyran-4-yl)oxy)-[3,3'-bipyridin]-5-yl)-3-(trifluoromethyl)benzamide (RAF709): A Potent, Selective, and Efficacious RAF Inhibitor Targeting RAS Mutant Cancers
Gisele A Nishiguchi, Alice Rico, Huw Tanner, et al.
American Journal of Human Genetics
|
January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, , Andrew Thom, et al.
Journal of Medicinal Chemistry
|
March 1, 2022
Discovery and Preclinical Pharmacology of INE963, a Potent and Fast-Acting Blood-Stage Antimalarial with a High Barrier to Resistance and Potential for Single-Dose Cures in Uncomplicated Malaria
Benjamin R Taft, Fumiaki Yokokawa, Tom Kirrane, et al.
JAMA Pediatrics
|
September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
, Ian D Krantz, Livija Medne, et al.
Journal of Medicinal Chemistry
|
May 7, 2019
Design and Discovery of <i>N</i>-(3-(2-(2-Hydroxyethoxy)-6-morpholinopyridin-4-yl)-4-methylphenyl)-2-(trifluoromethyl)isonicotinamide, a Selective, Efficacious, and Well-Tolerated RAF Inhibitor Targeting RAS Mutant Cancers: The Path to the Clinic
Savithri Ramurthy, Benjamin R Taft, Robert J Aversa, et al.
JAMIA Open
|
August 4, 2021
Establishing a multidisciplinary initiative for interoperable electronic health record innovations at an academic medical center
Kensaku Kawamoto, Polina V Kukhareva, Charlene Weir, et al.
Med (New York, N.Y.)
|
February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus
Ann E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Biorxiv : the Preprint Server for Biology
|
March 2, 2022
TARGETED DOWN REGULATION OF CORE MITOCHONDRIAL GENES DURING SARS-COV-2 INFECTION
Joseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
Nature
|
July 15, 2026
Magnetic character of the low-energy enhancement in <sup>70</sup>Zn
E K Ronning, A L Richard, S N Liddick, et al.
Page
of 136