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Human Molecular Genetics
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February 26, 2015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
Calista K L Ng, Mohammad Shboul, Valerio Taverniti, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
Lucy McNamee, Kelly Schoch, Alden Huang, et al.
Nature Genetics
|
May 15, 2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Carine Bonnard, Anna C Strobl, Mohammad Shboul, et al.
EMBO Molecular Medicine
|
April 17, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, et al.
Science Translational Medicine
|
September 21, 2018
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling
Fabiana Csukasi, Ivan Duran, Maya Barad, et al.
Genome Medicine
|
October 27, 2017
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
Hayk Barseghyan, Wilson Tang, Richard T Wang, et al.
The New England Journal of Medicine
|
June 11, 2020
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab
Monica Tsai, Timothy J Thauland, Alden Y Huang, et al.
American Journal of Human Genetics
|
December 7, 2010
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
Jing Tian, Ling Ling, Mohammad Shboul, et al.
BMC Medical Genetics
|
June 3, 2014
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P Strom, Reymundo Lozano, Hane Lee, et al.
Orphanet Journal of Rare Diseases
|
May 31, 2023
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Yin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
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of 14
Search research articles
Search
Showing results (51-60 of 134) with videos related to
Sort By:
Page
of 14
Human Molecular Genetics
|
February 26, 2015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
Calista K L Ng, Mohammad Shboul, Valerio Taverniti, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
Lucy McNamee, Kelly Schoch, Alden Huang, et al.
Nature Genetics
|
May 15, 2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Carine Bonnard, Anna C Strobl, Mohammad Shboul, et al.
EMBO Molecular Medicine
|
April 17, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, et al.
Science Translational Medicine
|
September 21, 2018
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling
Fabiana Csukasi, Ivan Duran, Maya Barad, et al.
Genome Medicine
|
October 27, 2017
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
Hayk Barseghyan, Wilson Tang, Richard T Wang, et al.
The New England Journal of Medicine
|
June 11, 2020
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab
Monica Tsai, Timothy J Thauland, Alden Y Huang, et al.
American Journal of Human Genetics
|
December 7, 2010
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
Jing Tian, Ling Ling, Mohammad Shboul, et al.
BMC Medical Genetics
|
June 3, 2014
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P Strom, Reymundo Lozano, Hane Lee, et al.
Orphanet Journal of Rare Diseases
|
May 31, 2023
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Yin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, et al.
Page
of 14