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Plos Genetics
|
February 2, 2019
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, et al.
The British Journal of Dermatology
|
February 17, 2017
Association and expression of the antigen-processing gene PSMB8, coding for low-molecular-mass protease 7, with vitiligo in North India: case-control study
P Dani, N Patnaik, A Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
American Journal of Human Genetics
|
January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Ozge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Monica H Wojcik, Kyoko Okada, Sanjay P Prabhu, et al.
Frontiers in Immunology
|
December 5, 2025
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis
Asena Pinar Sefer, Mehmet Cihangir Catak, Isa An, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
Journal of Clinical Pharmacology
|
September 3, 2004
The effects of modifying in vivo cytochrome P450 3A (CYP3A) activity on etoricoxib pharmacokinetics and of etoricoxib administration on CYP3A activity
Nancy G B Agrawal, Catherine Z Matthews, Ralph S Mazenko, et al.
JAMA Neurology
|
March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Sarah U Morton, John Christodoulou, Gregory Costain, et al.
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of 36
Search research articles
Search
Showing results (281-290 of 360) with videos related to
Sort By:
Page
of 36
Plos Genetics
|
February 2, 2019
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, et al.
The British Journal of Dermatology
|
February 17, 2017
Association and expression of the antigen-processing gene PSMB8, coding for low-molecular-mass protease 7, with vitiligo in North India: case-control study
P Dani, N Patnaik, A Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
American Journal of Human Genetics
|
January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Ozge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Monica H Wojcik, Kyoko Okada, Sanjay P Prabhu, et al.
Frontiers in Immunology
|
December 5, 2025
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis
Asena Pinar Sefer, Mehmet Cihangir Catak, Isa An, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
Journal of Clinical Pharmacology
|
September 3, 2004
The effects of modifying in vivo cytochrome P450 3A (CYP3A) activity on etoricoxib pharmacokinetics and of etoricoxib administration on CYP3A activity
Nancy G B Agrawal, Catherine Z Matthews, Ralph S Mazenko, et al.
JAMA Neurology
|
March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Sarah U Morton, John Christodoulou, Gregory Costain, et al.
Page
of 36