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Anna C Jansen

Showing results (91-100 of 97) with videos related to

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Nature Communications|November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two yearsFranz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
Nature Communications|November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two yearsFranz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Nucleic Acids Research|November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesSebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Pageof 10