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

Susanne Morlot

Showing results (1-10 of 33) with videos related to

Pageof 4
Sort By:
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Genetic counseling in times of genomic analyses - current aspects of common topics in human genetics practiceSusanne Morlot, Christian Netzer
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 14, 2015
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3)Susanne Ledig, Sabine Preisler-Adams, Susanne Morlot, et al.
Deutsches Arzteblatt International|July 2, 2014
Consider family historySusanne Morlot, Bernd Auber, Ursula Hille-Betz, et al.
Strahlentherapie Und Onkologie : Organ Der Deutschen Rontgengesellschaft ... [Et Al]|November 8, 2003
Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapyMichael Bremer, Detlev Schindler, Michaela Gross, et al.
Human Genetics|July 16, 2005
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTSOliver Bartsch, Stefanie Schmidt, Marion Richter, et al.
American Journal of Obstetrics and Gynecology|May 1, 2004
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytesAlbrecht Röpke, Antje-Friederike Pelz, Marianne Volleth, et al.
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
European Journal of Medical Genetics|March 5, 2018
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literatureFrederik Heldt, Hannah Wallaschek, Tim Ripperger, et al.
Human Mutation|April 23, 2002
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera, et al.
Human Molecular Genetics|December 10, 2009
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activationLothar Gremer, Alessandro De Luca, Torsten Merbitz-Zahradnik, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
Genetic counseling in times of genomic analyses - current aspects of common topics in human genetics practiceSusanne Morlot, Christian Netzer
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 14, 2015
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3)Susanne Ledig, Sabine Preisler-Adams, Susanne Morlot, et al.
Deutsches Arzteblatt International|July 2, 2014
Consider family historySusanne Morlot, Bernd Auber, Ursula Hille-Betz, et al.
Strahlentherapie Und Onkologie : Organ Der Deutschen Rontgengesellschaft ... [Et Al]|November 8, 2003
Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapyMichael Bremer, Detlev Schindler, Michaela Gross, et al.
Human Genetics|July 16, 2005
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTSOliver Bartsch, Stefanie Schmidt, Marion Richter, et al.
American Journal of Obstetrics and Gynecology|May 1, 2004
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytesAlbrecht Röpke, Antje-Friederike Pelz, Marianne Volleth, et al.
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
European Journal of Medical Genetics|March 5, 2018
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literatureFrederik Heldt, Hannah Wallaschek, Tim Ripperger, et al.
Human Mutation|April 23, 2002
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera, et al.
Human Molecular Genetics|December 10, 2009
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activationLothar Gremer, Alessandro De Luca, Torsten Merbitz-Zahradnik, et al.
Pageof 4