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Jakob Ek

Showing results (1-10 of 42) with videos related to

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Orphanet Journal of Rare Diseases|November 6, 2007
Oculocutaneous albinismKaren Grønskov, Jakob Ek, Karen Brondum-Nielsen
European Journal of Human Genetics : EJHG|May 26, 2018
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorderMaria Barington, Lotte Risom, Jakob Ek, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 18, 2015
A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndromeBergitte Drivenes, Alfred Peter Born, Jakob Ek, et al.
Ugeskrift for Laeger|May 6, 2017
[Exome sequencing for syndrome diagnostics]Elsebet Østergaard, Lotte Risom, Jakob Ek, et al.
Clinical Genetics|December 12, 2024
Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome SequencingTilde Olsen, Jakob Ek, Mads Bak, et al.
BMC Medical Genetics|April 5, 2011
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyGitte J Almind, Karen Grønskov, Dan Milea, et al.
JPGN Reports|May 18, 2023
Microvillus Inclusion Disease Caused by <i>MYO5B</i>: Different Presentation and Phenotypes Despite Same MutationBente Utoft Andreassen, Lise Aunsholt, Elsebet Østergaard, et al.
JIMD Reports|June 27, 2019
Genotype and phenotype classification of 29 patients affected by Krabbe diseaseAnna M H Madsen, Flemming Wibrand, Allan M Lund, et al.
Transplantation|April 29, 2004
Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?Frantisek Saudek, Stepánka Průhová, Peter Boucek, et al.
Investigative Ophthalmology & Visual Science|December 9, 2008
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinismKaren Grønskov, Jakob Ek, Annie Sand, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|November 6, 2007
Oculocutaneous albinismKaren Grønskov, Jakob Ek, Karen Brondum-Nielsen
European Journal of Human Genetics : EJHG|May 26, 2018
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorderMaria Barington, Lotte Risom, Jakob Ek, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 18, 2015
A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndromeBergitte Drivenes, Alfred Peter Born, Jakob Ek, et al.
Ugeskrift for Laeger|May 6, 2017
[Exome sequencing for syndrome diagnostics]Elsebet Østergaard, Lotte Risom, Jakob Ek, et al.
Clinical Genetics|December 12, 2024
Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome SequencingTilde Olsen, Jakob Ek, Mads Bak, et al.
BMC Medical Genetics|April 5, 2011
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyGitte J Almind, Karen Grønskov, Dan Milea, et al.
JPGN Reports|May 18, 2023
Microvillus Inclusion Disease Caused by <i>MYO5B</i>: Different Presentation and Phenotypes Despite Same MutationBente Utoft Andreassen, Lise Aunsholt, Elsebet Østergaard, et al.
JIMD Reports|June 27, 2019
Genotype and phenotype classification of 29 patients affected by Krabbe diseaseAnna M H Madsen, Flemming Wibrand, Allan M Lund, et al.
Transplantation|April 29, 2004
Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?Frantisek Saudek, Stepánka Průhová, Peter Boucek, et al.
Investigative Ophthalmology & Visual Science|December 9, 2008
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinismKaren Grønskov, Jakob Ek, Annie Sand, et al.
Pageof 5