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Ricardo Harripaul

Showing results (11-20 of 31) with videos related to

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Journal of Pediatric Genetics|May 1, 2018
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability FamiliesHumaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, et al.
Journal of Genetics|September 2, 2021
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in <i>GUCY2D</i> in a consanguineous Pakistani family with Leber congenital amaurosisHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Scientific Reports|December 1, 2021
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14Stephen F Pastore, Tahir Muhammad, Ricardo Harripaul, et al.
Scientific Reports|January 4, 2024
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Scientific Reports|May 2, 2024
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Journal of Psychiatric Research|September 29, 2019
Towards precision medicine in generalized anxiety disorder: Review of genetics and pharmaco(epi)geneticsJulia Tomasi, Amanda J Lisoway, Clement C Zai, et al.
Schizophrenia Research|July 12, 2017
A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gainKirti Mittal, Vanessa F Gonçalves, Ricardo Harripaul, et al.
Annals of Human Genetics|March 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutationsHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Journal of Pediatric Genetics|May 1, 2018
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability FamiliesHumaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, et al.
Journal of Genetics|September 2, 2021
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in <i>GUCY2D</i> in a consanguineous Pakistani family with Leber congenital amaurosisHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Scientific Reports|December 1, 2021
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14Stephen F Pastore, Tahir Muhammad, Ricardo Harripaul, et al.
Scientific Reports|January 4, 2024
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Scientific Reports|May 2, 2024
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Journal of Psychiatric Research|September 29, 2019
Towards precision medicine in generalized anxiety disorder: Review of genetics and pharmaco(epi)geneticsJulia Tomasi, Amanda J Lisoway, Clement C Zai, et al.
Schizophrenia Research|July 12, 2017
A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gainKirti Mittal, Vanessa F Gonçalves, Ricardo Harripaul, et al.
Annals of Human Genetics|March 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutationsHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
Pageof 4