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Maaike Vreeburg

Showing results (11-20 of 27) with videos related to

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European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Elife|December 13, 2022
Monoallelic <i>CRMP1</i> gene variants cause neurodevelopmental disorderEthiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, et al.
European Journal of Human Genetics : EJHG|August 24, 2021
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiencyLe Guo, Bob P H Engelen, Irene M G M Hemel, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Journal of Dermatological Science|March 4, 2026
Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratodermaVanya S V J Rossel, Jaap J A J van der Velden, Renske Janssen, et al.
Human Molecular Genetics|June 21, 2013
Birt-Hogg-Dube syndrome is a novel ciliopathyMonique N H Luijten, Sander G Basten, Tijs Claessens, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
European Journal of Pediatrics|March 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the NetherlandsRichelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Elife|December 13, 2022
Monoallelic <i>CRMP1</i> gene variants cause neurodevelopmental disorderEthiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, et al.
European Journal of Human Genetics : EJHG|August 24, 2021
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiencyLe Guo, Bob P H Engelen, Irene M G M Hemel, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Journal of Dermatological Science|March 4, 2026
Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratodermaVanya S V J Rossel, Jaap J A J van der Velden, Renske Janssen, et al.
Human Molecular Genetics|June 21, 2013
Birt-Hogg-Dube syndrome is a novel ciliopathyMonique N H Luijten, Sander G Basten, Tijs Claessens, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.
European Journal of Pediatrics|March 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the NetherlandsRichelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Pageof 3