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Human Genomics
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December 30, 2025
Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice
Yongjie Chen, Lin Li, Ranran Meng, et al.
Human Genomics
|
November 19, 2025
Assessing the clinical application value of SNP-array in fetal central nervous system malformations
Wei Li, Jiasun Su, Weiliang Lu, et al.
Human Genomics
|
May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
Human Genomics
|
April 16, 2024
The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis
Baofeng Li, Meng Li, Xiao Qi, et al.
Human Genomics
|
April 16, 2024
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction
Matsvei Tsishyn, Gabriel Cia, Pauline Hermans, et al.
Human Genomics
|
June 16, 2026
Smoking exposure alters splicing of the nicotinic acetylcholine receptor subunit CHRNA5
Maxwell H Hogshead, Atuahene Adu-Gyamfi, Brenen W Papenberg, et al.
Human Genomics
|
July 2, 2026
Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families
Assia Idyahia, Salaheddine Redouane, Fatima Ezzahra Chentoufi, et al.
Human Genomics
|
July 1, 2026
Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel
Mohadeseh Fathi, Parvaneh Karimzadeh, Farzad Ahmadabadi, et al.
Human Genomics
|
March 20, 2021
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability
Xi Long, Hong Xue
Human Genomics
|
November 22, 2018
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, et al.
Page
of 126
Search research articles
Search
Showing results (281-290 of 1,251) with videos related to
Sort By:
Page
of 126
Human Genomics
|
December 30, 2025
Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice
Yongjie Chen, Lin Li, Ranran Meng, et al.
Human Genomics
|
November 19, 2025
Assessing the clinical application value of SNP-array in fetal central nervous system malformations
Wei Li, Jiasun Su, Weiliang Lu, et al.
Human Genomics
|
May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
Human Genomics
|
April 16, 2024
The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis
Baofeng Li, Meng Li, Xiao Qi, et al.
Human Genomics
|
April 16, 2024
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction
Matsvei Tsishyn, Gabriel Cia, Pauline Hermans, et al.
Human Genomics
|
June 16, 2026
Smoking exposure alters splicing of the nicotinic acetylcholine receptor subunit CHRNA5
Maxwell H Hogshead, Atuahene Adu-Gyamfi, Brenen W Papenberg, et al.
Human Genomics
|
July 2, 2026
Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families
Assia Idyahia, Salaheddine Redouane, Fatima Ezzahra Chentoufi, et al.
Human Genomics
|
July 1, 2026
Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel
Mohadeseh Fathi, Parvaneh Karimzadeh, Farzad Ahmadabadi, et al.
Human Genomics
|
March 20, 2021
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability
Xi Long, Hong Xue
Human Genomics
|
November 22, 2018
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, et al.
Page
of 126