Search research articles
Contact Us
Filters
Showing results (31-40 of 37) with videos related to
Page
of 4
Sort By:
You have reached the last page of results.
This site can display upto 37 results.
American Journal of Human Genetics
|
July 31, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics
|
January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
Clinical Immunology (Orlando, Fla.)
|
October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Emil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 37) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 37 results.
American Journal of Human Genetics
|
July 31, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics
|
January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
Clinical Immunology (Orlando, Fla.)
|
October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Emil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Page
of 4