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The Journal of Clinical Investigation
|
December 13, 2016
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
Lisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.
Genome Medicine
|
September 13, 2024
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Adrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, et al.
American Journal of Human Genetics
|
October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Zehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Iscience
|
January 17, 2022
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Journal of the American Society of Nephrology : JASN
|
October 27, 2022
Genomic Disorders in CKD across the Lifespan
Miguel Verbitsky, Sarathbabu Krishnamurthy, Priya Krithivasan, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Advanced Genetics (Hoboken, N.J.)
|
December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)
Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
Journal of the American Society of Nephrology : JASN
|
February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.
Nature Genetics
|
December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Miguel Verbitsky, Rik Westland, Alejandra Perez, et al.
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of 13
Search research articles
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Showing results (111-120 of 122) with videos related to
Sort By:
Page
of 13
The Journal of Clinical Investigation
|
December 13, 2016
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome
Lisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.
Genome Medicine
|
September 13, 2024
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Adrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, et al.
American Journal of Human Genetics
|
October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Zehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Iscience
|
January 17, 2022
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Journal of the American Society of Nephrology : JASN
|
October 27, 2022
Genomic Disorders in CKD across the Lifespan
Miguel Verbitsky, Sarathbabu Krishnamurthy, Priya Krithivasan, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Advanced Genetics (Hoboken, N.J.)
|
December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)
Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
Journal of the American Society of Nephrology : JASN
|
February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.
Nature Genetics
|
December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Miguel Verbitsky, Rik Westland, Alejandra Perez, et al.
Page
of 13