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Peter Bauer

Showing results (541-550 of 585) with videos related to

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Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <i>GBA1</i>Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, et al.
European Journal of Human Genetics : EJHG|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsLigia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Brain : a Journal of Neurology|August 10, 2021
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorderEva Medico Salsench, Reza Maroofian, Ruizhi Deng, et al.
Nature Structural & Molecular Biology|December 12, 2024
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1Pilar Álvarez Jerez, Peter Wild Crea, Daniel M Ramos, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Pageof 59

Showing results (541-550 of 585) with videos related to

Sort By:
Pageof 59
Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <i>GBA1</i>Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, et al.
European Journal of Human Genetics : EJHG|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsLigia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Brain : a Journal of Neurology|August 10, 2021
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorderEva Medico Salsench, Reza Maroofian, Ruizhi Deng, et al.
Nature Structural & Molecular Biology|December 12, 2024
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1Pilar Álvarez Jerez, Peter Wild Crea, Daniel M Ramos, et al.
Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Pageof 59