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Emma L Baple

Showing results (71-80 of 93) with videos related to

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Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Brain : a Journal of Neurology|January 6, 2017
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesisMustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, et al.
Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalitiesJoseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Pageof 10

Showing results (71-80 of 93) with videos related to

Sort By:
Pageof 10
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Brain : a Journal of Neurology|January 6, 2017
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesisMustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, et al.
Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalitiesJoseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Pageof 10