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Raphael Schiffmann

Showing results (211-220 of 225) with videos related to

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Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
The Journal of Clinical Endocrinology and Metabolism|September 2, 2011
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1Yee-Ming Chan, Sarabeth Broder-Fingert, Sophia Paraschos, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Pageof 23

Showing results (211-220 of 225) with videos related to

Sort By:
Pageof 23
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
The Journal of Clinical Endocrinology and Metabolism|September 2, 2011
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1Yee-Ming Chan, Sarabeth Broder-Fingert, Sophia Paraschos, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Pageof 23