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Sinje Geuer

Showing results (1-10 of 9) with videos related to

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JAMA Ophthalmology|January 28, 2021
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular DystrophyMoustafa S Magliyah, Sinje Geuer, Abrar K Alsalamah, et al.
Scientific Reports|September 19, 2019
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defectsDaniel Liedtke, Melanie Orth, Michelle Meissler, et al.
Cell Reports|February 10, 2015
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in MiceKaterina Kraft, Sinje Geuer, Anja J Will, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeMichèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
JAMA Ophthalmology|January 28, 2021
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular DystrophyMoustafa S Magliyah, Sinje Geuer, Abrar K Alsalamah, et al.
Scientific Reports|September 19, 2019
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defectsDaniel Liedtke, Melanie Orth, Michelle Meissler, et al.
Cell Reports|February 10, 2015
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in MiceKaterina Kraft, Sinje Geuer, Anja J Will, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeMichèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Pageof 1