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Genetics in Medicine Open
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December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Nature Ecology & Evolution
|
August 25, 2025
Origin and evolutionary trajectories of brown algal sex chromosomes
Josué Barrera-Redondo, Agnieszka P Lipinska, Pengfei Liu, et al.
Human Molecular Genetics
|
March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Human Genetics
|
July 19, 2018
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
Jiaqi Liu, Yangzhong Zhou, Sen Liu, et al.
Genome Medicine
|
October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Haowei Du, Angad Jolly, Christopher M Grochowski, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
May 19, 2021
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
Xin Fan, Sen Zhao, Chenxi Yu, et al.
Nature Communications
|
June 7, 2020
Fast sulfate formation from oxidation of SO<sub>2</sub> by NO<sub>2</sub> and HONO observed in Beijing haze
Junfeng Wang, Jingyi Li, Jianhuai Ye, et al.
HGG Advances
|
March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Adam W Hansen, Payal Arora, Michael M Khayat, et al.
Nature
|
February 15, 2024
Observation of plaid-like spin splitting in a noncoplanar antiferromagnet
Yu-Peng Zhu, Xiaobing Chen, Xiang-Rui Liu, et al.
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Showing results (1121-1130 of 1,193) with videos related to
Sort By:
Page
of 120
Genetics in Medicine Open
|
December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Nature Ecology & Evolution
|
August 25, 2025
Origin and evolutionary trajectories of brown algal sex chromosomes
Josué Barrera-Redondo, Agnieszka P Lipinska, Pengfei Liu, et al.
Human Molecular Genetics
|
March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Human Genetics
|
July 19, 2018
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
Jiaqi Liu, Yangzhong Zhou, Sen Liu, et al.
Genome Medicine
|
October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Haowei Du, Angad Jolly, Christopher M Grochowski, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
May 19, 2021
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
Xin Fan, Sen Zhao, Chenxi Yu, et al.
Nature Communications
|
June 7, 2020
Fast sulfate formation from oxidation of SO<sub>2</sub> by NO<sub>2</sub> and HONO observed in Beijing haze
Junfeng Wang, Jingyi Li, Jianhuai Ye, et al.
HGG Advances
|
March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Adam W Hansen, Payal Arora, Michael M Khayat, et al.
Nature
|
February 15, 2024
Observation of plaid-like spin splitting in a noncoplanar antiferromagnet
Yu-Peng Zhu, Xiaobing Chen, Xiang-Rui Liu, et al.
Page
of 120