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Showing results (131-140 of 226) with videos related to

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Current Alzheimer Research|March 15, 2016
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative DiseaseCarlo Wilke, Frank Gillardon, Christian Deuschle, et al.
Neurological Research and Practice|February 1, 2022
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibersMaike F Dohrn, Corina Heller, Diana Zengeler, et al.
American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 28, 2023
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiologyLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Small (Weinheim an Der Bergstrasse, Germany)|April 14, 2021
Mapping Spatial Genetic Landscapes in Tissue Sections through Microscale Integration of Sampling Methodology into Genomic WorkflowsLena Voith von Voithenberg, Aditya Kashyap, Lennart Opitz, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.
Frontiers in Physiology|February 3, 2015
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneMaria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, et al.
Neuropediatrics|October 21, 2020
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size MattersEva-Katharina Willimsky, Anna Munzig, Karin Mayer, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
Prenatal Diagnosis|December 27, 2021
Trio exome sequencing is highly relevant in prenatal diagnosticsHeinz Gabriel, Dirk Korinth, Martin Ritthaler, et al.
Pageof 23

Showing results (131-140 of 226) with videos related to

Sort By:
Pageof 23
Current Alzheimer Research|March 15, 2016
Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative DiseaseCarlo Wilke, Frank Gillardon, Christian Deuschle, et al.
Neurological Research and Practice|February 1, 2022
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibersMaike F Dohrn, Corina Heller, Diana Zengeler, et al.
American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 28, 2023
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiologyLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
Small (Weinheim an Der Bergstrasse, Germany)|April 14, 2021
Mapping Spatial Genetic Landscapes in Tissue Sections through Microscale Integration of Sampling Methodology into Genomic WorkflowsLena Voith von Voithenberg, Aditya Kashyap, Lennart Opitz, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.
Frontiers in Physiology|February 3, 2015
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneMaria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, et al.
Neuropediatrics|October 21, 2020
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size MattersEva-Katharina Willimsky, Anna Munzig, Karin Mayer, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
Prenatal Diagnosis|December 27, 2021
Trio exome sequencing is highly relevant in prenatal diagnosticsHeinz Gabriel, Dirk Korinth, Martin Ritthaler, et al.
Pageof 23