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Vera Kalscheuer

Showing results (1-10 of 55) with videos related to

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Biochimica Et Biophysica Acta|November 10, 2005
Characterization of FBX25, encoding a novel brain-expressed F-box proteinOlivier Hagens, Eleonora Minina, Susann Schweiger, et al.
European Journal of Medical Genetics|June 10, 2006
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterizationUlrike Gamerdinger, Kristin Bosse, Thomas Eggermann, et al.
Clinical Dysmorphology|March 23, 2010
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutationsRyszard Slezak, Klaudiusz Luczak, Vera Kalscheuer, et al.
Duodecim; Laaketieteellinen Aikakauskirja|January 14, 2015
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]Maria Arvio, Anju K Philips, Minna Ahvenainen, et al.
Clinical Dysmorphology|July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava, Oliver Bartsch, Márta Czakó, et al.
Statistical Applications in Genetics and Molecular Biology|October 24, 2012
Modeling read counts for CNV detection in exome sequencing dataMichael I Love, Alena Myšičková, Ruping Sun, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, et al.
Journal of Cell Science|May 21, 2010
TRPV1 acts as a synaptic protein and regulates vesicle recyclingChandan Goswami, Nils Rademacher, Karl-Heinz Smalla, et al.
Human Molecular Genetics|May 23, 2013
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndromeZhe Zhang, Joy Norris, Vera Kalscheuer, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
Biochimica Et Biophysica Acta|November 10, 2005
Characterization of FBX25, encoding a novel brain-expressed F-box proteinOlivier Hagens, Eleonora Minina, Susann Schweiger, et al.
European Journal of Medical Genetics|June 10, 2006
First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterizationUlrike Gamerdinger, Kristin Bosse, Thomas Eggermann, et al.
Clinical Dysmorphology|March 23, 2010
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutationsRyszard Slezak, Klaudiusz Luczak, Vera Kalscheuer, et al.
Duodecim; Laaketieteellinen Aikakauskirja|January 14, 2015
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]Maria Arvio, Anju K Philips, Minna Ahvenainen, et al.
Clinical Dysmorphology|July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava, Oliver Bartsch, Márta Czakó, et al.
Statistical Applications in Genetics and Molecular Biology|October 24, 2012
Modeling read counts for CNV detection in exome sequencing dataMichael I Love, Alena Myšičková, Ruping Sun, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, et al.
Journal of Cell Science|May 21, 2010
TRPV1 acts as a synaptic protein and regulates vesicle recyclingChandan Goswami, Nils Rademacher, Karl-Heinz Smalla, et al.
Human Molecular Genetics|May 23, 2013
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndromeZhe Zhang, Joy Norris, Vera Kalscheuer, et al.
Pageof 6