Search research articles
Contact Us
Filters
Showing results (31-40 of 94) with videos related to
Page
of 10
Sort By:
Plos Genetics
|
June 6, 2015
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
Mary J Emond, Tin Louie, Julia Emerson, et al.
Scientific Reports
|
February 17, 2017
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, et al.
Plos Pathogens
|
February 12, 2019
Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1
Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, et al.
Plos Pathogens
|
November 7, 2017
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1
Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, et al.
Human Mutation
|
November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
Takayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.
NPJ Genomic Medicine
|
March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
David R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
Human Mutation
|
February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
HGG Advances
|
January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Thao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
American Journal of Human Genetics
|
April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Jessica X Chong, Viviana Caputo, Ian G Phelps, et al.
American Journal of Human Genetics
|
April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
Bobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Page
of 10
Search research articles
Search
Showing results (31-40 of 94) with videos related to
Sort By:
Page
of 10
Plos Genetics
|
June 6, 2015
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
Mary J Emond, Tin Louie, Julia Emerson, et al.
Scientific Reports
|
February 17, 2017
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, et al.
Plos Pathogens
|
February 12, 2019
Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1
Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, et al.
Plos Pathogens
|
November 7, 2017
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1
Romel D Mackelprang, Michael J Bamshad, Jessica X Chong, et al.
Human Mutation
|
November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
Takayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.
NPJ Genomic Medicine
|
March 22, 2025
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
David R Murdock, Dong-Chuan Guo, John S DePaolo, et al.
Human Mutation
|
February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S Rodrigues, Sean Griffith, Renan Martin, et al.
HGG Advances
|
January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Thao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
American Journal of Human Genetics
|
April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Jessica X Chong, Viviana Caputo, Ian G Phelps, et al.
American Journal of Human Genetics
|
April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
Bobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Page
of 10