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European Journal of Human Genetics : EJHG
|
October 11, 2012
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
Tua Vinther-Jensen, Jakob Ek, Morten Duno, et al.
Cerebellum (London, England)
|
March 14, 2025
Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort
Rosa Dam Waerling, Jenny Blechingberg, Jesper Kayser, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2013
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
Jan Rasmussen, Olav W Nielsen, Nils Janzen, et al.
Human Mutation
|
April 14, 2025
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency
Thomas Krag, Emily Nasho, Lauren Brady, et al.
Neurology
|
April 26, 2013
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene
Christoffer Rasmus Vissing, Morten Duno, Jess Have Olesen, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
November 27, 2023
Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity
Christina Louise Winther, Sofie Nyrann, Rasmus Gaardskaer Nielsen, et al.
Neuromuscular Disorders : NMD
|
October 29, 2013
A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy
Tina Dysgaard Jeppesen, Morten Duno, Lotte Risom, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 7, 2022
Disease Status at Diagnosis in Danish Children with α 1 -antitrypsin Deficiency
Christina Louise Winther, Sofie Nyrann, Rasmus Gaardskaer Nielsen, et al.
Muscle & Nerve
|
November 22, 2012
Muscle phenotype in patients with myotonic dystrophy type 1
Grete Andersen, Mette C Ørngreen, Nicolai Preisler, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
October 28, 2014
Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life
Signe Faurschou, Annette Mouritsen, Trine H Johannsen, et al.
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Search research articles
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Showing results (61-70 of 108) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
October 11, 2012
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
Tua Vinther-Jensen, Jakob Ek, Morten Duno, et al.
Cerebellum (London, England)
|
March 14, 2025
Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort
Rosa Dam Waerling, Jenny Blechingberg, Jesper Kayser, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2013
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
Jan Rasmussen, Olav W Nielsen, Nils Janzen, et al.
Human Mutation
|
April 14, 2025
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency
Thomas Krag, Emily Nasho, Lauren Brady, et al.
Neurology
|
April 26, 2013
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene
Christoffer Rasmus Vissing, Morten Duno, Jess Have Olesen, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
November 27, 2023
Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity
Christina Louise Winther, Sofie Nyrann, Rasmus Gaardskaer Nielsen, et al.
Neuromuscular Disorders : NMD
|
October 29, 2013
A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy
Tina Dysgaard Jeppesen, Morten Duno, Lotte Risom, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 7, 2022
Disease Status at Diagnosis in Danish Children with α 1 -antitrypsin Deficiency
Christina Louise Winther, Sofie Nyrann, Rasmus Gaardskaer Nielsen, et al.
Muscle & Nerve
|
November 22, 2012
Muscle phenotype in patients with myotonic dystrophy type 1
Grete Andersen, Mette C Ørngreen, Nicolai Preisler, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
October 28, 2014
Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life
Signe Faurschou, Annette Mouritsen, Trine H Johannsen, et al.
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of 11