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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Quentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics
|
June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Anna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
Lancet (London, England)
|
September 13, 2011
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
Manuel A R Ferreira, Melanie C Matheson, David L Duffy, et al.
Proceedings. Biological Sciences
|
November 23, 2018
The role of citizen science in addressing grand challenges in food and agriculture research
S F Ryan, N L Adamson, A Aktipis, et al.
Nature Communications
|
January 16, 2019
Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
David L Duffy, Gu Zhu, Xin Li, et al.
Nature Communications
|
November 16, 2018
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
David L Duffy, Gu Zhu, Xin Li, 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.
Molecular Genetics & Genomic Medicine
|
September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Science Translational Medicine
|
August 9, 2023
Core mitochondrial genes are down-regulated during SARS-CoV-2 infection of rodent and human hosts
Joseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
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of 54
Search research articles
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Showing results (501-510 of 531) with videos related to
Sort By:
Page
of 54
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Quentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics
|
June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Anna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
Lancet (London, England)
|
September 13, 2011
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
Manuel A R Ferreira, Melanie C Matheson, David L Duffy, et al.
Proceedings. Biological Sciences
|
November 23, 2018
The role of citizen science in addressing grand challenges in food and agriculture research
S F Ryan, N L Adamson, A Aktipis, et al.
Nature Communications
|
January 16, 2019
Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
David L Duffy, Gu Zhu, Xin Li, et al.
Nature Communications
|
November 16, 2018
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
David L Duffy, Gu Zhu, Xin Li, 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.
Molecular Genetics & Genomic Medicine
|
September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Science Translational Medicine
|
August 9, 2023
Core mitochondrial genes are down-regulated during SARS-CoV-2 infection of rodent and human hosts
Joseph W Guarnieri, Joseph M Dybas, Hossein Fazelinia, et al.
Page
of 54