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Showing results (121-130 of 230) with videos related to

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Journal of the Neurological Sciences|January 30, 2017
Clinical and genetic studies in patients with Lafora disease from PakistanArsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, et al.
Analytical Biochemistry|January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positivesRita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Hamostaseologie|November 6, 2015
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficienciesM Rath, J Najm, H Sirb, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Clinical Genetics|December 16, 2016
Mutations in CRLF1 cause familial achalasiaA Busch, M Žarković, C Lowe, et al.
Cardiovascular and Interventional Radiology|July 24, 2025
Road to Genicular Artery Embolization: Importance of the Anastomotic NetworkA Taheri Amin, F Ziayee, M Boschheidgen, et al.
Biomedicines|January 21, 2023
Impact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi ComplexPatricia Franzka, Svenja Caren Schüler, Takfarinas Kentache, et al.
Plos One|August 21, 2020
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P miceMatthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, et al.
Frontiers in Molecular Neuroscience|February 29, 2024
Consequences of GMPPB deficiency for neuromuscular development and maintenanceMona K Schurig, Obinna Umeh, Henriette Henze, et al.
Molecular Psychiatry|October 21, 2024
Npbwr1 signaling mediates fast antidepressant actionGregor Stein, Janine S Aly, Lisa Lange, et al.
Pageof 23

Showing results (121-130 of 230) with videos related to

Sort By:
Pageof 23
Journal of the Neurological Sciences|January 30, 2017
Clinical and genetic studies in patients with Lafora disease from PakistanArsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, et al.
Analytical Biochemistry|January 7, 2012
MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positivesRita-Eva Varga, Rizwan Mumtaz, Amir Jahic, et al.
Hamostaseologie|November 6, 2015
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficienciesM Rath, J Najm, H Sirb, et al.
Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Clinical Genetics|December 16, 2016
Mutations in CRLF1 cause familial achalasiaA Busch, M Žarković, C Lowe, et al.
Cardiovascular and Interventional Radiology|July 24, 2025
Road to Genicular Artery Embolization: Importance of the Anastomotic NetworkA Taheri Amin, F Ziayee, M Boschheidgen, et al.
Biomedicines|January 21, 2023
Impact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi ComplexPatricia Franzka, Svenja Caren Schüler, Takfarinas Kentache, et al.
Plos One|August 21, 2020
Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P miceMatthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, et al.
Frontiers in Molecular Neuroscience|February 29, 2024
Consequences of GMPPB deficiency for neuromuscular development and maintenanceMona K Schurig, Obinna Umeh, Henriette Henze, et al.
Molecular Psychiatry|October 21, 2024
Npbwr1 signaling mediates fast antidepressant actionGregor Stein, Janine S Aly, Lisa Lange, et al.
Pageof 23