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Francesco Vetrini

Showing results (31-40 of 57) with videos related to

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The Journal of Molecular Diagnostics : JMD|November 16, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative ProjectThomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, et al.
Nature Cell Biology|April 23, 2013
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loopCarmine Settembre, Rossella De Cegli, Gelsomina Mansueto, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
The Journal of Molecular Diagnostics : JMD|November 16, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative ProjectThomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, et al.
Nature Cell Biology|April 23, 2013
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loopCarmine Settembre, Rossella De Cegli, Gelsomina Mansueto, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Pageof 6