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Jakob Ek

Showing results (11-20 of 42) with videos related to

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Clinical Dysmorphology|September 27, 2018
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short statureSigrún Grímsdóttir, Hanne B Hove, Sven Kreiborg, et al.
Clinical Genetics|May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphologyLine Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
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 2Tua Vinther-Jensen, Jakob Ek, Morten Duno, et al.
BMC Medical Genetics|August 4, 2012
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%Gitte J Almind, Jakob Ek, Thomas Rosenberg, et al.
The Journal of Clinical Endocrinology and Metabolism|February 25, 2005
The functional Thr130Ile and Val255Met polymorphisms of the hepatocyte nuclear factor-4alpha (HNF4A): gene associations with type 2 diabetes or altered beta-cell function among DanesJakob Ek, Christian Schack Rose, Dorit Packert Jensen, et al.
Diabetes|September 28, 2005
A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whitesChristian S Rose, Jakob Ek, Søren A Urhammer, et al.
Investigative Ophthalmology & Visual Science|December 17, 2009
Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye StudyInger Christine Munch, Jakob Ek, Line Kessel, et al.
Pediatric Diabetes|March 12, 2008
Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1Lucie Gonsorcíková, Stepánka Průhová, Ondrej Cinek, et al.
European Journal of Medical Genetics|September 7, 2021
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthoodMorten Alstrup, Stephen D Marks, Jakob Ek, et al.
European Journal of Human Genetics : EJHG|June 21, 2018
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical courseSabine Grønborg, Lotte Risom, Jakob Ek, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Clinical Dysmorphology|September 27, 2018
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short statureSigrún Grímsdóttir, Hanne B Hove, Sven Kreiborg, et al.
Clinical Genetics|May 27, 2024
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphologyLine Aagaard Nolting, Tess Holling, Gen Nishimura, et al.
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 2Tua Vinther-Jensen, Jakob Ek, Morten Duno, et al.
BMC Medical Genetics|August 4, 2012
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%Gitte J Almind, Jakob Ek, Thomas Rosenberg, et al.
The Journal of Clinical Endocrinology and Metabolism|February 25, 2005
The functional Thr130Ile and Val255Met polymorphisms of the hepatocyte nuclear factor-4alpha (HNF4A): gene associations with type 2 diabetes or altered beta-cell function among DanesJakob Ek, Christian Schack Rose, Dorit Packert Jensen, et al.
Diabetes|September 28, 2005
A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whitesChristian S Rose, Jakob Ek, Søren A Urhammer, et al.
Investigative Ophthalmology & Visual Science|December 17, 2009
Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye StudyInger Christine Munch, Jakob Ek, Line Kessel, et al.
Pediatric Diabetes|March 12, 2008
Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1Lucie Gonsorcíková, Stepánka Průhová, Ondrej Cinek, et al.
European Journal of Medical Genetics|September 7, 2021
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthoodMorten Alstrup, Stephen D Marks, Jakob Ek, et al.
European Journal of Human Genetics : EJHG|June 21, 2018
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical courseSabine Grønborg, Lotte Risom, Jakob Ek, et al.
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