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Morten Duno

Showing results (101-110 of 108) with videos related to

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European Journal of Human Genetics : EJHG|August 10, 2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosisPhilip Farrell, Claude Férec, Milan Macek, et al.
European Journal of Medical Genetics|September 4, 2025
Diagnostic yield of whole exome sequencing in a cohort of 825 patientsPeter Førster Andersen, Jakob Ek, Helena Gásdal Karstensen, et al.
Annals of Neurology|October 15, 2019
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular DystrophyJohn Vissing, Katherine Johnson, Ana Töpf, et al.
Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.
Epilepsia|November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndromeJan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
BMC Pediatrics|October 30, 2023
Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and interventionChristina Engel Hoei-Hansen, Lene Weber, Mette Johansen, et al.
Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Pageof 11

Showing results (101-110 of 108) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 108 results.
European Journal of Human Genetics : EJHG|August 10, 2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosisPhilip Farrell, Claude Férec, Milan Macek, et al.
European Journal of Medical Genetics|September 4, 2025
Diagnostic yield of whole exome sequencing in a cohort of 825 patientsPeter Førster Andersen, Jakob Ek, Helena Gásdal Karstensen, et al.
Annals of Neurology|October 15, 2019
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular DystrophyJohn Vissing, Katherine Johnson, Ana Töpf, et al.
Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.
Epilepsia|November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndromeJan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
BMC Pediatrics|October 30, 2023
Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and interventionChristina Engel Hoei-Hansen, Lene Weber, Mette Johansen, et al.
Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
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