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Christian Babbs

Showing results (41-50 of 47) with videos related to

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British Journal of Haematology|July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasNoémi B A Roy, Edward A Wilson, Shirley Henderson, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
Nature Genetics|July 5, 2016
Genetic dissection of the α-globin super-enhancer in vivoDeborah Hay, Jim R Hughes, Christian Babbs, et al.
Journal of Medical Genetics|June 11, 2020
Genetic and functional insights into CDA-I prevalence and pathogenesisAude-Anais Olijnik, Noémi B A Roy, Caroline Scott, et al.
Nature Communications|July 22, 2021
Reactivation of a developmentally silenced embryonic globin geneAndrew J King, Duantida Songdej, Damien J Downes, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
British Journal of Haematology|July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasNoémi B A Roy, Edward A Wilson, Shirley Henderson, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
Nature Genetics|July 5, 2016
Genetic dissection of the α-globin super-enhancer in vivoDeborah Hay, Jim R Hughes, Christian Babbs, et al.
Journal of Medical Genetics|June 11, 2020
Genetic and functional insights into CDA-I prevalence and pathogenesisAude-Anais Olijnik, Noémi B A Roy, Caroline Scott, et al.
Nature Communications|July 22, 2021
Reactivation of a developmentally silenced embryonic globin geneAndrew J King, Duantida Songdej, Damien J Downes, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Pageof 5