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Journal of Genetics and Genomics = Yi Chuan Xue Bao
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October 5, 2024
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model
Ji-Won Park, Tae-Ik Choi, Tae-Yoon Kim, et al.
American Journal of Human Genetics
|
October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
Genome Medicine
|
July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Journal of Medical Genetics
|
November 13, 2025
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
Na Chen, Xi Cheng, Sen Zhao, et al.
Science China. Life Sciences
|
March 19, 2021
Efficient induction of neural progenitor cells from human ESC/iPSCs on Type I Collagen
Pengfei Liu, Shubin Chen, Yaofeng Wang, et al.
American Journal of Medical Genetics. Part A
|
May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Laura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy
Shuk Ching Chong, Ye Cao, Eva L W Fung, et al.
American Journal of Human Genetics
|
May 25, 2010
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
Feng Zhang, Pavel Seeman, Pengfei Liu, et al.
Genome Medicine
|
April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Zain Dardas, Jawid M Fatih, Angad Jolly, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
September 20, 2024
Observation of Spin Splitting in Room-Temperature Metallic Antiferromagnet CrSb
Meng Zeng, Ming-Yuan Zhu, Yu-Peng Zhu, et al.
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Showing results (1081-1090 of 1,193) with videos related to
Sort By:
Page
of 120
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
October 5, 2024
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model
Ji-Won Park, Tae-Ik Choi, Tae-Yoon Kim, et al.
American Journal of Human Genetics
|
October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
Genome Medicine
|
July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Journal of Medical Genetics
|
November 13, 2025
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
Na Chen, Xi Cheng, Sen Zhao, et al.
Science China. Life Sciences
|
March 19, 2021
Efficient induction of neural progenitor cells from human ESC/iPSCs on Type I Collagen
Pengfei Liu, Shubin Chen, Yaofeng Wang, et al.
American Journal of Medical Genetics. Part A
|
May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Laura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy
Shuk Ching Chong, Ye Cao, Eva L W Fung, et al.
American Journal of Human Genetics
|
May 25, 2010
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
Feng Zhang, Pavel Seeman, Pengfei Liu, et al.
Genome Medicine
|
April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Zain Dardas, Jawid M Fatih, Angad Jolly, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
September 20, 2024
Observation of Spin Splitting in Room-Temperature Metallic Antiferromagnet CrSb
Meng Zeng, Ming-Yuan Zhu, Yu-Peng Zhu, et al.
Page
of 120