Showing results (1341-1350 of 1,350) with videos related to

Sort By:
Pageof 135
You have reached the last page of results.This site can display upto 1,350 results.
Research Square|July 17, 2026
Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome functionLydia Green, Noémie Hamilton, Marilena Elpidorou, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseBatsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, et al.
The Journal of Experimental Medicine|October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 functionMichael T Lam, Simona Coppola, Oliver H F Krumbach, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Cell|August 13, 2024
High expression of oleoyl-ACP hydrolase underpins life-threatening respiratory viral diseasesXiaoxiao Jia, Jeremy Chase Crawford, Deborah Gebregzabher, et al.
Science (New York, N.Y.)|December 9, 2017
A precise measurement of the magnetic field in the corona of the black hole binary V404 CygniYigit Dallilar, Stephen S Eikenberry, Alan Garner, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Pageof 135