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Emma L Baple

Showing results (61-70 of 93) with videos related to

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The Lancet. Gastroenterology & Hepatology|January 12, 2023
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and NutritionJochen Kammermeier, Christopher A Lamb, Kelsey D J Jones, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Annals of Neurology|February 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse ModelLettie E Rawlins, Philip H Iffland, John Page, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Prenatal Diagnosis|March 5, 2024
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health ServiceHannah McInnes-Dean, Rhiannon Mellis, Morgan Daniel, et al.
EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.
The Journal of Clinical Investigation|February 18, 2020
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathyJeremy M Sullivan, William W Motley, Janel O Johnson, et al.
Pageof 10

Showing results (61-70 of 93) with videos related to

Sort By:
Pageof 10
The Lancet. Gastroenterology & Hepatology|January 12, 2023
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and NutritionJochen Kammermeier, Christopher A Lamb, Kelsey D J Jones, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Annals of Neurology|February 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse ModelLettie E Rawlins, Philip H Iffland, John Page, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Prenatal Diagnosis|March 5, 2024
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health ServiceHannah McInnes-Dean, Rhiannon Mellis, Morgan Daniel, et al.
EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.
The Journal of Clinical Investigation|February 18, 2020
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathyJeremy M Sullivan, William W Motley, Janel O Johnson, et al.
Pageof 10