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

Doris Steinemann

Showing results (41-50 of 158) with videos related to

Pageof 16
Sort By:
Pediatric Blood & Cancer|June 13, 2018
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndromeLisa Pahl, Rita Beier, Nils von Neuhoff, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139DSilke Pauli, Doris Steinemann, Kai Dittmann, et al.
Neuropediatrics|July 31, 2024
Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures-Long-Term Follow-Up of 12 YearsAnja Giesemann, Anja Schöner-Heinisch, Friedrich Götz, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Stem Cell Research|January 6, 2019
Generation of an induced pluripotent stem cell cohort suitable to investigate sporadic Alzheimer's DiseaseDavid C Schöndorf, Myriam Elschami, Maximilian Schieck, et al.
Pediatric Blood & Cancer|March 20, 2015
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignanciesBrigitte Schlegelberger, Hans Kreipe, Ulrich Lehmann, et al.
Stem Cell Research|February 17, 2020
Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)Nina V Fuchs, Maximilian Schieck, Michaela Neuenkirch, et al.
Acta Histochemica|December 14, 2011
MDR-1-overexpression in HT 29 colon cancer cells grown in SCID miceUdo Schumacher, Nina Nehmann, Elizabeth Adam, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencingJana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
Haematologica|November 30, 2023
Deciphering the molecular complexity of the IKZF1<sup>plus</sup> genomic profile using Optical Genome MappingJonathan L Lühmann, Martin Zimmermann, Winfried Hofmann, et al.
Pageof 16

Showing results (41-50 of 158) with videos related to

Sort By:
Pageof 16
Pediatric Blood & Cancer|June 13, 2018
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndromeLisa Pahl, Rita Beier, Nils von Neuhoff, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139DSilke Pauli, Doris Steinemann, Kai Dittmann, et al.
Neuropediatrics|July 31, 2024
Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures-Long-Term Follow-Up of 12 YearsAnja Giesemann, Anja Schöner-Heinisch, Friedrich Götz, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Stem Cell Research|January 6, 2019
Generation of an induced pluripotent stem cell cohort suitable to investigate sporadic Alzheimer's DiseaseDavid C Schöndorf, Myriam Elschami, Maximilian Schieck, et al.
Pediatric Blood & Cancer|March 20, 2015
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignanciesBrigitte Schlegelberger, Hans Kreipe, Ulrich Lehmann, et al.
Stem Cell Research|February 17, 2020
Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)Nina V Fuchs, Maximilian Schieck, Michaela Neuenkirch, et al.
Acta Histochemica|December 14, 2011
MDR-1-overexpression in HT 29 colon cancer cells grown in SCID miceUdo Schumacher, Nina Nehmann, Elizabeth Adam, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencingJana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
Haematologica|November 30, 2023
Deciphering the molecular complexity of the IKZF1<sup>plus</sup> genomic profile using Optical Genome MappingJonathan L Lühmann, Martin Zimmermann, Winfried Hofmann, et al.
Pageof 16