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 (61-70 of 269) with videos related to

Pageof 27
Sort By:
Journal of Nephrology|July 2, 2003
Autosomal recessive polycystic kidney disease (ARPKD)Klaus Zerres, Sabine Rudnik-Schöneborn, Jan Senderek, et al.
Neuromuscular Disorders : NMD|December 25, 2007
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approachesThomas Eggermann, Katja Eggermann, Miriam Elbracht, et al.
Human Reproduction Update|February 19, 2020
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequencesMiriam Elbracht, Deborah Mackay, Matthias Begemann, et al.
Prenatal Diagnosis|June 21, 2023
Prenatal testing for Imprinting Disorders: A clinical perspectiveAndreas Dufke, Thomas Eggermann, Karl Oliver Kagan, et al.
Journal of Clinical Ultrasound : JCU|January 30, 2020
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndromeJudith Altmann, Denise Horn, Dirk Korinth, et al.
Pediatric Endocrinology Reviews : PER|December 15, 2010
Genetic and epigenetic findings in Silver-Russell syndromeThomas Eggermann, Matthias Begemann, Sabrina Spengler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 22, 2002
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndromeGerhard Binder, Konstantina Mavridou, Hartmut A Wollmann, et al.
European Journal of Human Genetics : EJHG|June 1, 2017
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspringLukas Soellner, Matthias Begemann, Franziska Degenhardt, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Corrigendum to: Clinical spectrum and management of imprinting disordersMiriam Elbracht, Gerhard Binder, Olaf Hiort, et al.
Clinical Epigenetics|February 17, 2019
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulationFlorian Kraft, Katharina Wesseler, Matthias Begemann, et al.
Pageof 27

Showing results (61-70 of 269) with videos related to

Sort By:
Pageof 27
Journal of Nephrology|July 2, 2003
Autosomal recessive polycystic kidney disease (ARPKD)Klaus Zerres, Sabine Rudnik-Schöneborn, Jan Senderek, et al.
Neuromuscular Disorders : NMD|December 25, 2007
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approachesThomas Eggermann, Katja Eggermann, Miriam Elbracht, et al.
Human Reproduction Update|February 19, 2020
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequencesMiriam Elbracht, Deborah Mackay, Matthias Begemann, et al.
Prenatal Diagnosis|June 21, 2023
Prenatal testing for Imprinting Disorders: A clinical perspectiveAndreas Dufke, Thomas Eggermann, Karl Oliver Kagan, et al.
Journal of Clinical Ultrasound : JCU|January 30, 2020
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndromeJudith Altmann, Denise Horn, Dirk Korinth, et al.
Pediatric Endocrinology Reviews : PER|December 15, 2010
Genetic and epigenetic findings in Silver-Russell syndromeThomas Eggermann, Matthias Begemann, Sabrina Spengler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 22, 2002
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndromeGerhard Binder, Konstantina Mavridou, Hartmut A Wollmann, et al.
European Journal of Human Genetics : EJHG|June 1, 2017
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspringLukas Soellner, Matthias Begemann, Franziska Degenhardt, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Corrigendum to: Clinical spectrum and management of imprinting disordersMiriam Elbracht, Gerhard Binder, Olaf Hiort, et al.
Clinical Epigenetics|February 17, 2019
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulationFlorian Kraft, Katharina Wesseler, Matthias Begemann, et al.
Pageof 27