Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ute Grasshoff

Showing results (21-30 of 45) with videos related to

Pageof 5
Sort By:
European Journal of Human Genetics : EJHG|January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderFatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
Genome Research|March 11, 2008
Mapping translocation breakpoints by next-generation sequencingWei Chen, Vera Kalscheuer, Andreas Tzschach, et al.
American Journal of Medical Genetics. Part A|July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndromeFelix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.
Human Molecular Genetics|March 7, 2003
Transgenic rat model of Huntington's diseaseStephan von Hörsten, Ina Schmitt, Huu Phuc Nguyen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderFatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
Genome Research|March 11, 2008
Mapping translocation breakpoints by next-generation sequencingWei Chen, Vera Kalscheuer, Andreas Tzschach, et al.
American Journal of Medical Genetics. Part A|July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndromeFelix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.
Human Molecular Genetics|March 7, 2003
Transgenic rat model of Huntington's diseaseStephan von Hörsten, Ina Schmitt, Huu Phuc Nguyen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Pageof 5