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Morten Duno

Showing results (31-40 of 108) with videos related to

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Investigative Ophthalmology & Visual Science|April 10, 2014
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathiesMette Bertelsen, Jana Zernant, Michael Larsen, et al.
Gene|December 26, 2012
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndromeMorten Duno, Flemming Wibrand, Kirsten Baggesen, et al.
Journal of Neuropathology and Experimental Neurology|September 21, 2020
Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic ParalysisSonja Holm-Yildiz, Thomas Krag, Nanna Witting, et al.
Pediatric Research|November 5, 2016
Prevalence of SHOX haploinsufficiency among short statured childrenMaja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, et al.
JIMD Reports|November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophyJonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
Archives of Disease in Childhood|March 14, 2012
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastiaPhilip Hellmann, Peter Christiansen, Trine Holm Johannsen, et al.
Clinical Case Reports|December 12, 2017
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case studyTina Dysgaard Jeppesen, Noor Al-Hashimi, Morten Duno, et al.
BMC Musculoskeletal Disorders|March 27, 2012
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophiesSimon Hauerslev, Marie-Louise Sveen, Morten Duno, et al.
BMC Musculoskeletal Disorders|October 21, 2017
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case reportPatrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, et al.
Ophthalmic Genetics|February 1, 2017
Leber hereditary optic neuropathy due to a new ND1 mutationPatrick Soldath, Marianne Wegener, Birgit Sander, et al.
Pageof 11

Showing results (31-40 of 108) with videos related to

Sort By:
Pageof 11
Investigative Ophthalmology & Visual Science|April 10, 2014
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathiesMette Bertelsen, Jana Zernant, Michael Larsen, et al.
Gene|December 26, 2012
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndromeMorten Duno, Flemming Wibrand, Kirsten Baggesen, et al.
Journal of Neuropathology and Experimental Neurology|September 21, 2020
Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic ParalysisSonja Holm-Yildiz, Thomas Krag, Nanna Witting, et al.
Pediatric Research|November 5, 2016
Prevalence of SHOX haploinsufficiency among short statured childrenMaja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, et al.
JIMD Reports|November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophyJonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
Archives of Disease in Childhood|March 14, 2012
Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastiaPhilip Hellmann, Peter Christiansen, Trine Holm Johannsen, et al.
Clinical Case Reports|December 12, 2017
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case studyTina Dysgaard Jeppesen, Noor Al-Hashimi, Morten Duno, et al.
BMC Musculoskeletal Disorders|March 27, 2012
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophiesSimon Hauerslev, Marie-Louise Sveen, Morten Duno, et al.
BMC Musculoskeletal Disorders|October 21, 2017
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case reportPatrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, et al.
Ophthalmic Genetics|February 1, 2017
Leber hereditary optic neuropathy due to a new ND1 mutationPatrick Soldath, Marianne Wegener, Birgit Sander, et al.
Pageof 11