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The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|August 4, 2018
Sexually Transmitted Infection Testing in Adolescents: Current Practices in the Hospital SettingAbbey R Masonbrink, Troy Richardson, Russell J McCulloh, et al.
Frontiers in Endocrinology|March 5, 2025
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testingSarah E Flanagan, Isabella-Anna Lazaridi, Jonna M E Männistö, et al.
Neural Development|January 11, 2011
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotypeNoelle D Dwyer, Danielle K Manning, Jennifer L Moran, et al.
Biorxiv : the Preprint Server for Biology|May 15, 2024
High-resolution detection of copy number alterations in single cells with HiScannerYifan Zhao, Lovelace J Luquette, Alexander D Veit, et al.
Biorxiv : the Preprint Server for Biology|April 16, 2025
Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulationJanet H T Song, Ava C Carter, Evan M Bushinsky, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutationKow Essuman, Yingxi Yang, Eitan Goodman, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizuresAlmundher Al-Maawali, Brenda J Barry, Anna Rajab, et al.
Cancer Discovery|August 14, 2021
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human BrainJavier Ganz, Eduardo A Maury, Basheer Becerra, et al.
Journal of Clinical Immunology|January 4, 2023
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX SyndromeRebecca C Wyatt, Sven Olek, Elisa De Franco, et al.
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