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Showing results (341-350 of 359) with videos related to

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Scientific Reports|October 13, 2021
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
American Journal of Human Genetics|April 7, 2018
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.
Eclinicalmedicine|October 19, 2023
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designHelge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, et al.
Psychiatry Research|April 26, 2025
Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases - prevalence, type and relevanceJan Dieris-Hirche, Stephan Herpertz, Helge Hebestreit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Pageof 36

Showing results (341-350 of 359) with videos related to

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Pageof 36
Scientific Reports|October 13, 2021
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
American Journal of Human Genetics|April 7, 2018
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.
American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.
Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.
Eclinicalmedicine|October 19, 2023
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designHelge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, et al.
Psychiatry Research|April 26, 2025
Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases - prevalence, type and relevanceJan Dieris-Hirche, Stephan Herpertz, Helge Hebestreit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Pageof 36