Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
HGG Advances|July 28, 2025
De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathiesErfan Aref-Eshghi, Ingrid M Wentzensen, Tawfeg Ben-Omran, et al.
HGG Advances|February 27, 2025
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomaliesErin Torti, Sureni V Mullegama, Isabelle De Bie, et al.
HGG Advances|March 23, 2025
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomaliesMichelle M Morrow, Erin Torti, Bobbi McGivern, et al.
HGG Advances|February 14, 2025
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotypeLeah Rowe, Sureni V Mullegama, Rachel Lombardo, et al.
European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderGazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Pageof 2