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Matias Wagner

Showing results (141-150 of 188) with videos related to

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American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial DysmorphismIllja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Pageof 19

Showing results (141-150 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
American Journal of Human Genetics|April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial DysmorphismIllja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Pageof 19