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Christian Beetz

Showing results (131-140 of 160) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, 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.
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.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, 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.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 16

Showing results (131-140 of 160) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, 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.
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.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, 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.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 16