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Rena Godfrey

Showing results (1-10 of 11) with videos related to

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Rare (Amsterdam, Netherlands)|November 28, 2025
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique casesJulia Grafstein, Yuka Aoyama, Rena Godfrey, et al.
Developmental Medicine and Child Neurology|August 2, 2017
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Leah Svingen, Mitchell Goheen, Rena Godfrey, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Molecular Genetics and Metabolism|October 24, 2020
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndromeThomas Johnstone, Jennifer Wang, Daron Ross, et al.
Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Rare (Amsterdam, Netherlands)|November 28, 2025
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique casesJulia Grafstein, Yuka Aoyama, Rena Godfrey, et al.
Developmental Medicine and Child Neurology|August 2, 2017
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Leah Svingen, Mitchell Goheen, Rena Godfrey, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Molecular Genetics and Metabolism|October 24, 2020
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndromeThomas Johnstone, Jennifer Wang, Daron Ross, et al.
Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Pageof 2