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Emma L Baple

Showing results (41-50 of 93) with videos related to

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BMC Neurology|June 5, 2026
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani familiesBilal Ahmad, Matthew Adams, Iram Javed, et al.
International Journal of Ophthalmology|December 20, 2021
Novel mutations in <i>PDE6A</i> and <i>CDHR1</i> cause retinitis pigmentosa in Pakistani familiesMuhammad Dawood, Siying Lin, Taj Ud Din, et al.
Cell Death Discovery|April 8, 2026
Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical featuresJoan Sala-Gaston, Laura Costa-Sastre, Manel Garcia-Diez, et al.
European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMaria M Alves, Danny Halim, Reza Maroofian, et al.
Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
American Journal of Medical Genetics. Part A|July 27, 2025
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare InequalitiesZantasha Khalid, Matthew Adams, Anees Muhammad, et al.
Scientific Reports|September 15, 2019
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotypingLuke O'Gorman, Chelsea S Norman, Luke Michaels, et al.
Pageof 10

Showing results (41-50 of 93) with videos related to

Sort By:
Pageof 10
BMC Neurology|June 5, 2026
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani familiesBilal Ahmad, Matthew Adams, Iram Javed, et al.
International Journal of Ophthalmology|December 20, 2021
Novel mutations in <i>PDE6A</i> and <i>CDHR1</i> cause retinitis pigmentosa in Pakistani familiesMuhammad Dawood, Siying Lin, Taj Ud Din, et al.
Cell Death Discovery|April 8, 2026
Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical featuresJoan Sala-Gaston, Laura Costa-Sastre, Manel Garcia-Diez, et al.
European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMaria M Alves, Danny Halim, Reza Maroofian, et al.
Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
American Journal of Medical Genetics. Part A|July 27, 2025
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare InequalitiesZantasha Khalid, Matthew Adams, Anees Muhammad, et al.
Scientific Reports|September 15, 2019
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotypingLuke O'Gorman, Chelsea S Norman, Luke Michaels, et al.
Pageof 10