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The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 4, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness DisordersKonstantinia Almpani, Katelin R Devine, Denise K Liberton, et al.Genome Research|July 16, 2009
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicineLeslie G Biesecker, James C Mullikin, Flavia M Facio, et al.American Journal of Human Genetics|April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samplesJoseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.Genetics in Medicine Open|July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndromeBryn D Webb, Julie A Jurgens, Narisu Narisu, et al.Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.Pageof 3