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Morten Duno

Showing results (21-30 of 108) with videos related to

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American Journal of Medical Genetics. Part A|September 24, 2015
Hearing impairment and renal failure associated with RMND1 mutationsKirstine Ravn, Mette Neland, Flemming Wibrand, et al.
JIMD Reports|November 5, 2014
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype CorrelationAllan Bayat, Mette Christensen, Flemming Wibrand, et al.
Acta Ophthalmologica|July 16, 2013
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testingAurore Mensah, Nanna Witting, Morten Duno, et al.
Ophthalmic Genetics|February 22, 2021
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinismLine Kessel, Birgit Kjer, Ulrikke Lei, et al.
Molecular Vision|June 17, 2011
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa casesElsebet Ostergaard, Morten Duno, Mustafa Batbayli, et al.
BMC Neurology|October 24, 2019
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case reportVardan Nersesjan, Klaus Hansen, Thomas Krag, et al.
European Journal of Medical Genetics|June 20, 2007
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial featuresMaria Kirchhoff, Anne-Marie Bisgaard, Morten Duno, et al.
Neuromuscular Disorders : NMD|February 11, 2014
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathyGülsenay Citirak, Nanna Witting, Morten Duno, et al.
Genes|June 24, 2022
High Resolution Analysis of <i>DMPK</i> Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Astrid Rasmussen, Mathis Hildonen, John Vissing, et al.
Brain : a Journal of Neurology|October 21, 2017
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized studyGrete Andersen, Gitte Hedermann, Nanna Witting, et al.
Pageof 11

Showing results (21-30 of 108) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|September 24, 2015
Hearing impairment and renal failure associated with RMND1 mutationsKirstine Ravn, Mette Neland, Flemming Wibrand, et al.
JIMD Reports|November 5, 2014
Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype CorrelationAllan Bayat, Mette Christensen, Flemming Wibrand, et al.
Acta Ophthalmologica|July 16, 2013
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testingAurore Mensah, Nanna Witting, Morten Duno, et al.
Ophthalmic Genetics|February 22, 2021
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinismLine Kessel, Birgit Kjer, Ulrikke Lei, et al.
Molecular Vision|June 17, 2011
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa casesElsebet Ostergaard, Morten Duno, Mustafa Batbayli, et al.
BMC Neurology|October 24, 2019
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case reportVardan Nersesjan, Klaus Hansen, Thomas Krag, et al.
European Journal of Medical Genetics|June 20, 2007
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial featuresMaria Kirchhoff, Anne-Marie Bisgaard, Morten Duno, et al.
Neuromuscular Disorders : NMD|February 11, 2014
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathyGülsenay Citirak, Nanna Witting, Morten Duno, et al.
Genes|June 24, 2022
High Resolution Analysis of <i>DMPK</i> Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Astrid Rasmussen, Mathis Hildonen, John Vissing, et al.
Brain : a Journal of Neurology|October 21, 2017
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized studyGrete Andersen, Gitte Hedermann, Nanna Witting, et al.
Pageof 11