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Morten Duno

Showing results (71-80 of 108) with videos related to

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Orphanet Journal of Rare Diseases|September 1, 2011
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutationsKirstine Ravn, Gitte Roende, Morten Duno, et al.
Scientific Reports|February 14, 2023
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disordersJonas Jalili Pedersen, Mads Godtfeldt Stemmerik, Laura Nørager Jacobsen, et al.
Neurology|September 21, 2012
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophySamuel Groeschel, Christine í Dali, Philipp Clas, et al.
Plos One|September 24, 2013
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruptionLotte Risom, Line Christoffersen, Jette Daugaard-Jensen, et al.
Pediatric Pulmonology|November 5, 2019
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 yearsMarianne Skov, Marie Baekvad-Hansen, David M Hougaard, et al.
Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.
Journal of Medical Genetics|May 28, 2011
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndromeElsebet Ostergaard, Richard J Rodenburg, Mariël van den Brand, et al.
The Journal of Clinical Endocrinology and Metabolism|April 17, 2013
Identification of a novel androgen receptor mutation in a family with multiple components compatible with the testicular dysgenesis syndromeGrete Lottrup, Anne Jørgensen, John E Nielsen, et al.
Bone|April 14, 2022
Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentationNicola Hepp, Lars Folkestad, Simone Møllebæk, et al.
JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.
Pageof 11

Showing results (71-80 of 108) with videos related to

Sort By:
Pageof 11
Orphanet Journal of Rare Diseases|September 1, 2011
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutationsKirstine Ravn, Gitte Roende, Morten Duno, et al.
Scientific Reports|February 14, 2023
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disordersJonas Jalili Pedersen, Mads Godtfeldt Stemmerik, Laura Nørager Jacobsen, et al.
Neurology|September 21, 2012
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophySamuel Groeschel, Christine í Dali, Philipp Clas, et al.
Plos One|September 24, 2013
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruptionLotte Risom, Line Christoffersen, Jette Daugaard-Jensen, et al.
Pediatric Pulmonology|November 5, 2019
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 yearsMarianne Skov, Marie Baekvad-Hansen, David M Hougaard, et al.
Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.
Journal of Medical Genetics|May 28, 2011
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndromeElsebet Ostergaard, Richard J Rodenburg, Mariël van den Brand, et al.
The Journal of Clinical Endocrinology and Metabolism|April 17, 2013
Identification of a novel androgen receptor mutation in a family with multiple components compatible with the testicular dysgenesis syndromeGrete Lottrup, Anne Jørgensen, John E Nielsen, et al.
Bone|April 14, 2022
Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentationNicola Hepp, Lars Folkestad, Simone Møllebæk, et al.
JIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.
Pageof 11