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Bruno Reversade

Showing results (81-90 of 134) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorderChristian A E Westrip, Franziska Paul, Fathiya Al-Murshedi, et al.
Cancer Cell|February 27, 2018
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPSTakuji Yamauchi, Takeshi Masuda, Matthew C Canver, et al.
Human Molecular Genetics|June 2, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorderFranziska Paul, Calista Ng, Umar Bin Mohamad Sahari, et al.
Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Human Molecular Genetics|October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafishChristopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
Nature Methods|June 13, 2022
Direct identification of A-to-I editing sites with nanopore native RNA sequencingTram Anh Nguyen, Jia Wei Joel Heng, Pornchai Kaewsapsak, et al.
Brain Pathology (Zurich, Switzerland)|March 14, 2022
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insultAmin Ziaei, Marta Garcia-Miralles, Carola I Radulescu, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Pageof 14

Showing results (81-90 of 134) with videos related to

Sort By:
Pageof 14
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorderChristian A E Westrip, Franziska Paul, Fathiya Al-Murshedi, et al.
Cancer Cell|February 27, 2018
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPSTakuji Yamauchi, Takeshi Masuda, Matthew C Canver, et al.
Human Molecular Genetics|June 2, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorderFranziska Paul, Calista Ng, Umar Bin Mohamad Sahari, et al.
Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Human Molecular Genetics|October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafishChristopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
Nature Methods|June 13, 2022
Direct identification of A-to-I editing sites with nanopore native RNA sequencingTram Anh Nguyen, Jia Wei Joel Heng, Pornchai Kaewsapsak, et al.
Brain Pathology (Zurich, Switzerland)|March 14, 2022
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insultAmin Ziaei, Marta Garcia-Miralles, Carola I Radulescu, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
Pageof 14