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

Janine Altmüller

Showing results (91-100 of 326) with videos related to

Pageof 33
Sort By:
Scientific Reports|February 20, 2021
MTBP phosphorylation controls DNA replication origin firingPedro Ferreira, Verena Höfer, Nora Kronshage, et al.
American Journal of Human Genetics|August 15, 2009
X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected womenRoman A Siddiqui, Ulrike Sauermann, Janine Altmüller, et al.
Scientific Reports|June 13, 2019
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in AdipogenesisAngie Lindner, Felix Marbach, Sebastian Tschernitz, et al.
Human Genetics|December 2, 2015
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani familySandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyMaria Asif, Ionut Dragos Mocanu, Uzma Abdullah, et al.
Human Genetics|May 7, 2021
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinismAlexander E Volk, Andrea Hedergott, Markus Preising, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.
Plos One|November 13, 2012
Trigeminal ganglion neurons of mice show intracellular chloride accumulation and chloride-dependent amplification of capsaicin-induced responsesNicole Schöbel, Debbie Radtke, Matthias Lübbert, et al.
Nephron|May 24, 2018
A de novo KCNA1 Mutation in a Patient with Tetany and HypomagnesemiaJenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, et al.
Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.
Pageof 33

Showing results (91-100 of 326) with videos related to

Sort By:
Pageof 33
Scientific Reports|February 20, 2021
MTBP phosphorylation controls DNA replication origin firingPedro Ferreira, Verena Höfer, Nora Kronshage, et al.
American Journal of Human Genetics|August 15, 2009
X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected womenRoman A Siddiqui, Ulrike Sauermann, Janine Altmüller, et al.
Scientific Reports|June 13, 2019
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in AdipogenesisAngie Lindner, Felix Marbach, Sebastian Tschernitz, et al.
Human Genetics|December 2, 2015
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani familySandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyMaria Asif, Ionut Dragos Mocanu, Uzma Abdullah, et al.
Human Genetics|May 7, 2021
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinismAlexander E Volk, Andrea Hedergott, Markus Preising, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.
Plos One|November 13, 2012
Trigeminal ganglion neurons of mice show intracellular chloride accumulation and chloride-dependent amplification of capsaicin-induced responsesNicole Schöbel, Debbie Radtke, Matthias Lübbert, et al.
Nephron|May 24, 2018
A de novo KCNA1 Mutation in a Patient with Tetany and HypomagnesemiaJenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, et al.
Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.
Pageof 33