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Matias Wagner

Showing results (111-120 of 188) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 12, 2024
Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkersLea Hüper, Petra Steinacker, Maryna Polyakova, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Parkinsonism & Related Disorders|February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystoniaMichael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Pageof 19

Showing results (111-120 of 188) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 12, 2024
Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkersLea Hüper, Petra Steinacker, Maryna Polyakova, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Parkinsonism & Related Disorders|February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystoniaMichael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Pageof 19