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

Saskia Biskup

Showing results (201-210 of 226) with videos related to

Pageof 23
Sort By:
The Journal of Allergy and Clinical Immunology|November 18, 2023
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencingAnne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Cell|March 15, 2024
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failureStefan Zwirner, Anan A Abu Rmilah, Sabrina Klotz, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Neuro-Oncology Advances|March 14, 2023
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous systemMirjam Renovanz, Sylvia C Kurz, Johannes Rieger, et al.
Pageof 23

Showing results (201-210 of 226) with videos related to

Sort By:
Pageof 23
The Journal of Allergy and Clinical Immunology|November 18, 2023
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencingAnne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Cell|March 15, 2024
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failureStefan Zwirner, Anan A Abu Rmilah, Sabrina Klotz, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Brain : a Journal of Neurology|July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesMarcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Neuro-Oncology Advances|March 14, 2023
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous systemMirjam Renovanz, Sylvia C Kurz, Johannes Rieger, et al.
Pageof 23