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Almuth Caliebe

Showing results (11-20 of 81) with videos related to

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Journal of Child Neurology|January 22, 2025
Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 PatientsJohanna Pohl, Harry Nuss, Almuth Caliebe, et al.
Journal of Glaucoma|November 16, 2006
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)Gabriela Chavarria-Soley, Karin Michels-Rautenstrauss, Almuth Caliebe, et al.
Human Genetics|November 28, 2006
Gene symbol: JAG1. Disease: tetralogy of FallotC Glaeser, Dieter Kotzot, Almuth Caliebe, et al.
American Journal of Medical Genetics. Part A|October 3, 2023
Annular pancreas in two sisters: The story goes onPhilipp Elischer, Almuth Caliebe, Inga Nagel, et al.
Molecular Cytogenetics|November 9, 2010
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population controlJudith Frohnauer, Almuth Caliebe, Stefan Gesk, et al.
Molecular Cytogenetics|December 6, 2011
Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10Jörg Weimer, Simone Heidemann, Constantin S von Kaisenberg, et al.
Human Reproduction (Oxford, England)|January 29, 2010
Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21Cordula Schippert, Matthias Bloechle, Silke Marr, et al.
European Journal of Medical Genetics|June 25, 2011
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformationSusanne Bens, Andrea Haake, Holger Tönnies, et al.
Clinical Dysmorphology|July 31, 2010
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardationLoukas Argyriou, Olaf Hiort, Peter Meinecke, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Journal of Child Neurology|January 22, 2025
Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 PatientsJohanna Pohl, Harry Nuss, Almuth Caliebe, et al.
Journal of Glaucoma|November 16, 2006
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)Gabriela Chavarria-Soley, Karin Michels-Rautenstrauss, Almuth Caliebe, et al.
Human Genetics|November 28, 2006
Gene symbol: JAG1. Disease: tetralogy of FallotC Glaeser, Dieter Kotzot, Almuth Caliebe, et al.
American Journal of Medical Genetics. Part A|October 3, 2023
Annular pancreas in two sisters: The story goes onPhilipp Elischer, Almuth Caliebe, Inga Nagel, et al.
Molecular Cytogenetics|November 9, 2010
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population controlJudith Frohnauer, Almuth Caliebe, Stefan Gesk, et al.
Molecular Cytogenetics|December 6, 2011
Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10Jörg Weimer, Simone Heidemann, Constantin S von Kaisenberg, et al.
Human Reproduction (Oxford, England)|January 29, 2010
Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21Cordula Schippert, Matthias Bloechle, Silke Marr, et al.
European Journal of Medical Genetics|June 25, 2011
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformationSusanne Bens, Andrea Haake, Holger Tönnies, et al.
Clinical Dysmorphology|July 31, 2010
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardationLoukas Argyriou, Olaf Hiort, Peter Meinecke, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
Pageof 9