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Genome Medicine
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July 30, 2013
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Kai Wang, Cecilia Kim, Jonathan Bradfield, et al.
The Journal of Gene Medicine
|
August 20, 2025
Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
Hui-Qi Qu, Kayleigh Ostberg, Diana J Slater, et al.
Diabetes Research and Clinical Practice
|
February 22, 2026
Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
Hui-Qi Qu, Kayleigh Ostberg, Diana J Slater, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
American Journal of Human Genetics
|
August 27, 2004
Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia
Jubao Duan, Maria Martinez, Alan R Sanders, et al.
Genome Research
|
January 15, 2009
Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy
Edward F Attiyeh, Sharon J Diskin, Marc A Attiyeh, et al.
The Journal of Pediatrics
|
December 23, 2017
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)
Xiao Chang, Dong Li, Lifeng Tian, et al.
Experimental Biology and Medicine (Maywood, N.J.)
|
September 2, 2025
Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
Hui-Qi Qu, Kushagra Goel, Kayleigh Ostberg, et al.
Journal of the National Cancer Institute
|
February 26, 2020
Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
Xiao Chang, Marina Bakay, Yichuan Liu, et al.
Scientific Reports
|
December 22, 2015
Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children
Xiao Chang, Joseph Glessner, Adrienne Tin, et al.
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of 8
Search research articles
Search
Showing results (21-30 of 78) with videos related to
Sort By:
Page
of 8
Genome Medicine
|
July 30, 2013
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Kai Wang, Cecilia Kim, Jonathan Bradfield, et al.
The Journal of Gene Medicine
|
August 20, 2025
Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
Hui-Qi Qu, Kayleigh Ostberg, Diana J Slater, et al.
Diabetes Research and Clinical Practice
|
February 22, 2026
Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
Hui-Qi Qu, Kayleigh Ostberg, Diana J Slater, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
American Journal of Human Genetics
|
August 27, 2004
Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia
Jubao Duan, Maria Martinez, Alan R Sanders, et al.
Genome Research
|
January 15, 2009
Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy
Edward F Attiyeh, Sharon J Diskin, Marc A Attiyeh, et al.
The Journal of Pediatrics
|
December 23, 2017
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)
Xiao Chang, Dong Li, Lifeng Tian, et al.
Experimental Biology and Medicine (Maywood, N.J.)
|
September 2, 2025
Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
Hui-Qi Qu, Kushagra Goel, Kayleigh Ostberg, et al.
Journal of the National Cancer Institute
|
February 26, 2020
Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
Xiao Chang, Marina Bakay, Yichuan Liu, et al.
Scientific Reports
|
December 22, 2015
Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children
Xiao Chang, Joseph Glessner, Adrienne Tin, et al.
Page
of 8