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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
BMC Genomics
|
June 20, 2014
Relationship between genome and epigenome--challenges and requirements for future research
Geneviève Almouzni, Lucia Altucci, Bruno Amati, et al.
Nature
|
May 27, 2021
Swarm Learning for decentralized and confidential clinical machine learning
Stefanie Warnat-Herresthal, Hartmut Schultze, Krishnaprasad Lingadahalli Shastry, et al.
Plos Pathogens
|
December 23, 2024
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
Axel Schmidt, Nicolas Casadei, Fabian Brand, et al.
Cell
|
May 27, 2021
A global metagenomic map of urban microbiomes and antimicrobial resistance
David Danko, Daniela Bezdan, Evan E Afshin, et al.
European Journal of Cancer (Oxford, England : 1990)
|
September 18, 2024
Benchmarking whole exome sequencing in the German network for personalized medicine
Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, et al.
Nature Medicine
|
June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
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of 16
Search research articles
Search
Showing results (141-150 of 155) with videos related to
Sort By:
Page
of 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
BMC Genomics
|
June 20, 2014
Relationship between genome and epigenome--challenges and requirements for future research
Geneviève Almouzni, Lucia Altucci, Bruno Amati, et al.
Nature
|
May 27, 2021
Swarm Learning for decentralized and confidential clinical machine learning
Stefanie Warnat-Herresthal, Hartmut Schultze, Krishnaprasad Lingadahalli Shastry, et al.
Plos Pathogens
|
December 23, 2024
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
Axel Schmidt, Nicolas Casadei, Fabian Brand, et al.
Cell
|
May 27, 2021
A global metagenomic map of urban microbiomes and antimicrobial resistance
David Danko, Daniela Bezdan, Evan E Afshin, et al.
European Journal of Cancer (Oxford, England : 1990)
|
September 18, 2024
Benchmarking whole exome sequencing in the German network for personalized medicine
Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, et al.
Nature Medicine
|
June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Page
of 16