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Yanick J Crow

Showing results (81-90 of 233) with videos related to

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Developmental Medicine and Child Neurology|December 4, 2024
Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trialYanick J Crow, Tracy A Briggs, Despina Eleftheriou, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndromeMuthukumar Sakthivel, Stephen M Hughes, Phil Riley, et al.
Molecular Genetics & Genomic Medicine|June 10, 2021
Novel compound heterozygous STN1 variants are associated with Coats Plus syndromeTanvi Acharya, Helen V Firth, Shilpa Dugar, et al.
Rheumatology (Oxford, England)|April 20, 2021
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutationBrigitte Bader-Meunier, Marta Bustaffa, Thinhinane Iskounen, et al.
Kidney International|March 27, 2022
Type I interferon-related kidney disordersLorenzo Lodi, Maria V Mastrolia, Federica Bello, et al.
Neuropediatrics|May 29, 2020
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood NeurodegenerationParag Mohan Tamhankar, Bin Zhu, Vasundhara Parag Tamhankar, et al.
Annals of the Rheumatic Diseases|June 3, 2018
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou <i>et al</i>: mutations in <i>TRNT1</i> result in a constitutive activation of type I interferon signallingMarie-Louise Frémond, Isabelle Melki, Sven Kracker, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
An Indian child with Coats plus syndrome due to mutations in STN1Gouri Rao Passi, Uzma Shamim, Surabhi Rathore, et al.
JAMA Dermatology|May 21, 2015
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With PolyangiitisJustine Munoz, Michel Rodière, Nadia Jeremiah, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2CJulie Vogt, Shakti Agrawal, Zala Ibrahim, et al.
Pageof 24

Showing results (81-90 of 233) with videos related to

Sort By:
Pageof 24
Developmental Medicine and Child Neurology|December 4, 2024
Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trialYanick J Crow, Tracy A Briggs, Despina Eleftheriou, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndromeMuthukumar Sakthivel, Stephen M Hughes, Phil Riley, et al.
Molecular Genetics & Genomic Medicine|June 10, 2021
Novel compound heterozygous STN1 variants are associated with Coats Plus syndromeTanvi Acharya, Helen V Firth, Shilpa Dugar, et al.
Rheumatology (Oxford, England)|April 20, 2021
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutationBrigitte Bader-Meunier, Marta Bustaffa, Thinhinane Iskounen, et al.
Kidney International|March 27, 2022
Type I interferon-related kidney disordersLorenzo Lodi, Maria V Mastrolia, Federica Bello, et al.
Neuropediatrics|May 29, 2020
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood NeurodegenerationParag Mohan Tamhankar, Bin Zhu, Vasundhara Parag Tamhankar, et al.
Annals of the Rheumatic Diseases|June 3, 2018
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou <i>et al</i>: mutations in <i>TRNT1</i> result in a constitutive activation of type I interferon signallingMarie-Louise Frémond, Isabelle Melki, Sven Kracker, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
An Indian child with Coats plus syndrome due to mutations in STN1Gouri Rao Passi, Uzma Shamim, Surabhi Rathore, et al.
JAMA Dermatology|May 21, 2015
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With PolyangiitisJustine Munoz, Michel Rodière, Nadia Jeremiah, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2CJulie Vogt, Shakti Agrawal, Zala Ibrahim, et al.
Pageof 24