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

Thomas Eggermann

Showing results (51-60 of 269) with videos related to

Pageof 27
Sort By:
American Journal of Medical Genetics. Part A|March 31, 2015
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotypeUlrike Kordaß, Carmen Schröder, Miriam Elbracht, et al.
Molecular Syndromology|October 4, 2021
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell SyndromeAnna Lengyel, Éva Pinti, Thomas Eggermann, et al.
Hormone Research in Paediatrics|July 5, 2017
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell SyndromeGerhard Binder, Thomas Eggermann, Karin Weber, et al.
Cancers|July 9, 2022
Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical PracticeThomas Eggermann, Eamonn R Maher, Christian P Kratz, et al.
Deutsche Medizinische Wochenschrift (1946)|April 15, 2016
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]Roland Wolfgang Därr, Steffen Lenzner, Thomas Eggermann, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 15, 2008
ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome featuresThomas Eggermann, Esther Meyer, A Okay Caglayan, et al.
European Journal of Pediatrics|May 25, 2002
Uniparental disomy: clinical indications for testing in growth retardationThomas Eggermann, Klaus Zerres, Katja Eggermann, et al.
Clinical Nephrology|December 20, 2012
Multi-exon deletion in the XDH gene as a cause of classical xanthinuriaThomas Eggermann, Sabrina Spengler, Bernd Denecke, et al.
American Journal of Medical Genetics. Part A|April 5, 2008
Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 yearsUlrike Gamerdinger, Thomas Eggermann, Regine Schubert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 18, 2008
No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutationNadine Schönherr, Esther Meyer, Gerhard Binder, et al.
Pageof 27

Showing results (51-60 of 269) with videos related to

Sort By:
Pageof 27
American Journal of Medical Genetics. Part A|March 31, 2015
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotypeUlrike Kordaß, Carmen Schröder, Miriam Elbracht, et al.
Molecular Syndromology|October 4, 2021
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell SyndromeAnna Lengyel, Éva Pinti, Thomas Eggermann, et al.
Hormone Research in Paediatrics|July 5, 2017
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell SyndromeGerhard Binder, Thomas Eggermann, Karin Weber, et al.
Cancers|July 9, 2022
Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical PracticeThomas Eggermann, Eamonn R Maher, Christian P Kratz, et al.
Deutsche Medizinische Wochenschrift (1946)|April 15, 2016
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]Roland Wolfgang Därr, Steffen Lenzner, Thomas Eggermann, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 15, 2008
ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome featuresThomas Eggermann, Esther Meyer, A Okay Caglayan, et al.
European Journal of Pediatrics|May 25, 2002
Uniparental disomy: clinical indications for testing in growth retardationThomas Eggermann, Klaus Zerres, Katja Eggermann, et al.
Clinical Nephrology|December 20, 2012
Multi-exon deletion in the XDH gene as a cause of classical xanthinuriaThomas Eggermann, Sabrina Spengler, Bernd Denecke, et al.
American Journal of Medical Genetics. Part A|April 5, 2008
Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 yearsUlrike Gamerdinger, Thomas Eggermann, Regine Schubert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 18, 2008
No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutationNadine Schönherr, Esther Meyer, Gerhard Binder, et al.
Pageof 27