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American Journal of Medical Genetics. Part A
|
March 5, 2015
FBN1 contributing to familial congenital diaphragmatic hernia
Tyler F Beck, Philippe M Campeau, Shalini N Jhangiani, et al.
Nature Biotechnology
|
October 18, 2024
Droplet Hi-C enables scalable, single-cell profiling of chromatin architecture in heterogeneous tissues
Lei Chang, Yang Xie, Brett Taylor, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Human Genetics
|
November 6, 2019
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
Przemyslaw Szafranski, Qian Liu, Justyna A Karolak, et al.
American Journal of Human Genetics
|
April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
Philippe M Campeau, Guy M Lenk, James T Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 19, 2013
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, et al.
Vaccine
|
April 17, 2023
Factors associated with COVID-19 vaccination during June-October 2021: A multi-site prospective study
Reva S Datar, Lida M Fette, Amy N Hinkelman, et al.
Human Genetics
|
July 27, 2018
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Renqian Du, Nuriye Dinckan, Xiaofei Song, et al.
BMC Medical Genomics
|
February 23, 2012
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes
Luca A Lotta, Mark Wang, Jin Yu, et al.
The Journal of Clinical Investigation
|
March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
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of 117
Search research articles
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Showing results (771-780 of 1,165) with videos related to
Sort By:
Page
of 117
American Journal of Medical Genetics. Part A
|
March 5, 2015
FBN1 contributing to familial congenital diaphragmatic hernia
Tyler F Beck, Philippe M Campeau, Shalini N Jhangiani, et al.
Nature Biotechnology
|
October 18, 2024
Droplet Hi-C enables scalable, single-cell profiling of chromatin architecture in heterogeneous tissues
Lei Chang, Yang Xie, Brett Taylor, et al.
European Journal of Human Genetics : EJHG
|
September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
Human Genetics
|
November 6, 2019
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
Przemyslaw Szafranski, Qian Liu, Justyna A Karolak, et al.
American Journal of Human Genetics
|
April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
Philippe M Campeau, Guy M Lenk, James T Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 19, 2013
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, et al.
Vaccine
|
April 17, 2023
Factors associated with COVID-19 vaccination during June-October 2021: A multi-site prospective study
Reva S Datar, Lida M Fette, Amy N Hinkelman, et al.
Human Genetics
|
July 27, 2018
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Renqian Du, Nuriye Dinckan, Xiaofei Song, et al.
BMC Medical Genomics
|
February 23, 2012
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes
Luca A Lotta, Mark Wang, Jin Yu, et al.
The Journal of Clinical Investigation
|
March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
Page
of 117